1.Equivalence of SYN008 versus omalizumab in patients with refractory chronic spontaneous urticaria: A multicenter, randomized, double-blind, parallel-group, active-controlled phase III study.
Jingyi LI ; Yunsheng LIANG ; Wenli FENG ; Liehua DENG ; Hong FANG ; Chao JI ; Youkun LIN ; Furen ZHANG ; Rushan XIA ; Chunlei ZHANG ; Shuping GUO ; Mao LIN ; Yanling LI ; Shoumin ZHANG ; Xiaojing KANG ; Liuqing CHEN ; Zhiqiang SONG ; Xu YAO ; Chengxin LI ; Xiuping HAN ; Guoxiang GUO ; Qing GUO ; Xinsuo DUAN ; Jie LI ; Juan SU ; Shanshan LI ; Qing SUN ; Juan TAO ; Yangfeng DING ; Danqi DENG ; Fuqiu LI ; Haiyun SUO ; Shunquan WU ; Jingbo QIU ; Hongmei LUO ; Linfeng LI ; Ruoyu LI
Chinese Medical Journal 2025;138(16):2040-2042
2.Efficacy and safety of modified cystic wall peeling combined with Zhang′s tension-reduced suture in treatment of sebaceous cysts
Baogang LI ; Yang LUO ; Chao ZHANG ; Xiaoliang ZHANG
Chinese Journal of Medical Aesthetics and Cosmetology 2025;31(6):592-597
Objective:To analyze the efficacy and safety of a modified cystic wall peeling method combined with Zhang′s tension-reduced suture in the treatment of sebaceous cysts.Methods:Twenty-eight patients with sebaceous cysts, 22 males and 6 females, aged 18-44 (27.3±5.7) years, who were treated with modified cystic wall peeling combined with Zhang′s tension-reduced suture at the 940 Hospital of the Joint Logistic Support Force from July 2022 to October 2023 were prospectively included. A simple cyst peeler was self-made using a sterile tear duct probe with a diameter of 0.5 mm and a length of 7.3 cm. The skin was incised directly when the cyst protruded <5 mm from the skin surface; a shuttle incision was used to remove excess skin when the cyst protruded ≥5 mm from the skin surface. After incision of the skin, the cavity between the cyst wall and the surrounding normal tissue at the incision site was peeled off with ophthalmic scissors, and the cyst peeler was inserted into the cavity up to the bottom of the cyst and rotated along the cystic wall for 1 week to achieve complete blunt peeling within the cyst from the surrounding normal tissue. After the peeling was completed, the sebaceous cyst was squeezed by hand to discharge the cystic wall and its contents; if it could not be discharged, the cyst contents were released first and then squeezed. Absorbable sutures were used to close the residual cavity with Zhang′s tension-reduced suture, and then the incision was closed intermittently with non-absorbable sutures, and the surgical site was bandaged with pressure. Postoperative follow-up was performed for 1 year by telephone or WeChat to assess the overall postoperative effective rate, overall satisfactory rate, modified sebaceous cyst score and incidence of incisional scarring hyperplasia, and to record the occurrence of adverse reactions.Results:The preoperative modified sebaceous cyst score of 28 patients was (5.39±1.34) scores, which decreased to (0.25±0.59) scores one year after surgery, and the difference was statistically significant ( P<0.001). The overall postoperative effective rate was 100% (28/28), and the overall satisfactory rate was 96.4% (27/28), and all patients had no scarring hyperplasia. One patient had localized epidermal necrosis at the skin edge of the chest incision, one patient had erythema and scattered ecchymosis in the surgical area of the buttocks, and one patient had pain at the surgical site of the left upper extremity, which were cured after symptomatic treatment. Conclusion:Modified cystic wall peeling combined with Zhang′s tension-reduced suture is effective in the treatment of sebaceous cysts, and the incidence of adverse effects is low.
3.Tubeimoside I promoted Snail ubiquitination degradation and inhibited the malignant progression of PANC-1 pancreatic cancer cells
Lixue FENG ; Chunyun ZHANG ; Zeyan LI ; Huiqi YIN ; Yingning SUN ; Dian-hui LIU ; Baogang YU ; He LIU ; Qingzhu YANG
Chinese Journal of Pathophysiology 2025;41(10):1955-1962
AIM:This study aims to investigate the molecular mechanism by which tubeimoside I(TBMS1)inhibits Snail expression in pancreatic cancer cells(PANC-1).METHODS:Human pancreatic cancer PANC-1 cells were cultured in vitro.The inhibitory effect of TBMS1 on PANC-1 cells was assessed using the MTT assay,and the data were analyzed based on the IC50 value of TBMS1.The impact of TBMS1 on the clonal formation ability of PANC-1 cells was evaluated through colony formation assays.The Transwell assay was employed to assess the effect of TBMS1 on the migrato-ry capability of PANC-1 cells.Apoptosis and cell cycle alterations in PANC-1 cells were analyzed using acridine orange staining and flow cytometry.The expression of Snail protein in pancreatic cancer and its relationship with survival of the patients were analyzed using the GEPIA database and Kaplan-Meier Plotter data.Immunofluorescence staining was con-ducted to investigate the effect of TBMS1 on Snail expression,while Western blot was used to evaluate the expression of poly(ADP-ribose)polymerase(PARP),E-cadherin and Snail in the cells.The ubiquitination of Snail protein was mea-sured using immunoprecipitation techniques.RESULTS:As the concentration of TBMS1 increased,the survival rate and number of clones formed by PANC-1 cells progressively decreased,leading to apoptosis,cleavage of PARP,and cell cycle arrest in the G1 phase.There was also a reduction in the proportion of cells in the S phase and a decrease in cell migration ability.The expression of Snail protein,a critical factor in cell migration,was inhibited,while E-cadherin protein levels were increased.Treatment with the proteasome inhibitor MG132 was able to reverse the suppression of Snail protein ex-pression caused by TBMS1.Immunoprecipitation results indicated that TBMS1 enhances the ubiquitination and subse-quent degradation of Snail protein.CONCLUSION:TBMS1 effectively inhibits the malignant progression of pancreatic cancer cells by promoting the ubiquitination and degradation of Snail protein in PANC-1 cells.
4.Tubeimoside I promoted Snail ubiquitination degradation and inhibited the malignant progression of PANC-1 pancreatic cancer cells
Lixue FENG ; Chunyun ZHANG ; Zeyan LI ; Huiqi YIN ; Yingning SUN ; Dian-hui LIU ; Baogang YU ; He LIU ; Qingzhu YANG
Chinese Journal of Pathophysiology 2025;41(10):1955-1962
AIM:This study aims to investigate the molecular mechanism by which tubeimoside I(TBMS1)inhibits Snail expression in pancreatic cancer cells(PANC-1).METHODS:Human pancreatic cancer PANC-1 cells were cultured in vitro.The inhibitory effect of TBMS1 on PANC-1 cells was assessed using the MTT assay,and the data were analyzed based on the IC50 value of TBMS1.The impact of TBMS1 on the clonal formation ability of PANC-1 cells was evaluated through colony formation assays.The Transwell assay was employed to assess the effect of TBMS1 on the migrato-ry capability of PANC-1 cells.Apoptosis and cell cycle alterations in PANC-1 cells were analyzed using acridine orange staining and flow cytometry.The expression of Snail protein in pancreatic cancer and its relationship with survival of the patients were analyzed using the GEPIA database and Kaplan-Meier Plotter data.Immunofluorescence staining was con-ducted to investigate the effect of TBMS1 on Snail expression,while Western blot was used to evaluate the expression of poly(ADP-ribose)polymerase(PARP),E-cadherin and Snail in the cells.The ubiquitination of Snail protein was mea-sured using immunoprecipitation techniques.RESULTS:As the concentration of TBMS1 increased,the survival rate and number of clones formed by PANC-1 cells progressively decreased,leading to apoptosis,cleavage of PARP,and cell cycle arrest in the G1 phase.There was also a reduction in the proportion of cells in the S phase and a decrease in cell migration ability.The expression of Snail protein,a critical factor in cell migration,was inhibited,while E-cadherin protein levels were increased.Treatment with the proteasome inhibitor MG132 was able to reverse the suppression of Snail protein ex-pression caused by TBMS1.Immunoprecipitation results indicated that TBMS1 enhances the ubiquitination and subse-quent degradation of Snail protein.CONCLUSION:TBMS1 effectively inhibits the malignant progression of pancreatic cancer cells by promoting the ubiquitination and degradation of Snail protein in PANC-1 cells.
5.Efficacy and safety of modified cystic wall peeling combined with Zhang′s tension-reduced suture in treatment of sebaceous cysts
Baogang LI ; Yang LUO ; Chao ZHANG ; Xiaoliang ZHANG
Chinese Journal of Medical Aesthetics and Cosmetology 2025;31(6):592-597
Objective:To analyze the efficacy and safety of a modified cystic wall peeling method combined with Zhang′s tension-reduced suture in the treatment of sebaceous cysts.Methods:Twenty-eight patients with sebaceous cysts, 22 males and 6 females, aged 18-44 (27.3±5.7) years, who were treated with modified cystic wall peeling combined with Zhang′s tension-reduced suture at the 940 Hospital of the Joint Logistic Support Force from July 2022 to October 2023 were prospectively included. A simple cyst peeler was self-made using a sterile tear duct probe with a diameter of 0.5 mm and a length of 7.3 cm. The skin was incised directly when the cyst protruded <5 mm from the skin surface; a shuttle incision was used to remove excess skin when the cyst protruded ≥5 mm from the skin surface. After incision of the skin, the cavity between the cyst wall and the surrounding normal tissue at the incision site was peeled off with ophthalmic scissors, and the cyst peeler was inserted into the cavity up to the bottom of the cyst and rotated along the cystic wall for 1 week to achieve complete blunt peeling within the cyst from the surrounding normal tissue. After the peeling was completed, the sebaceous cyst was squeezed by hand to discharge the cystic wall and its contents; if it could not be discharged, the cyst contents were released first and then squeezed. Absorbable sutures were used to close the residual cavity with Zhang′s tension-reduced suture, and then the incision was closed intermittently with non-absorbable sutures, and the surgical site was bandaged with pressure. Postoperative follow-up was performed for 1 year by telephone or WeChat to assess the overall postoperative effective rate, overall satisfactory rate, modified sebaceous cyst score and incidence of incisional scarring hyperplasia, and to record the occurrence of adverse reactions.Results:The preoperative modified sebaceous cyst score of 28 patients was (5.39±1.34) scores, which decreased to (0.25±0.59) scores one year after surgery, and the difference was statistically significant ( P<0.001). The overall postoperative effective rate was 100% (28/28), and the overall satisfactory rate was 96.4% (27/28), and all patients had no scarring hyperplasia. One patient had localized epidermal necrosis at the skin edge of the chest incision, one patient had erythema and scattered ecchymosis in the surgical area of the buttocks, and one patient had pain at the surgical site of the left upper extremity, which were cured after symptomatic treatment. Conclusion:Modified cystic wall peeling combined with Zhang′s tension-reduced suture is effective in the treatment of sebaceous cysts, and the incidence of adverse effects is low.
6.Efficacy and safety of LY01005 versus goserelin implant in Chinese patients with prostate cancer: A multicenter, randomized, open-label, phase III, non-inferiority trial.
Chengyuan GU ; Zengjun WANG ; Tianxin LIN ; Zhiyu LIU ; Weiqing HAN ; Xuhui ZHANG ; Chao LIANG ; Hao LIU ; Yang YU ; Zhenzhou XU ; Shuang LIU ; Jingen WANG ; Linghua JIA ; Xin YAO ; Wenfeng LIAO ; Cheng FU ; Zhaohui TAN ; Guohua HE ; Guoxi ZHU ; Rui FAN ; Wenzeng YANG ; Xin CHEN ; Zhizhong LIU ; Liqiang ZHONG ; Benkang SHI ; Degang DING ; Shubo CHEN ; Junli WEI ; Xudong YAO ; Ming CHEN ; Zhanpeng LU ; Qun XIE ; Zhiquan HU ; Yinhuai WANG ; Hongqian GUO ; Tiwu FAN ; Zhaozhao LIANG ; Peng CHEN ; Wei WANG ; Tao XU ; Chunsheng LI ; Jinchun XING ; Hong LIAO ; Dalin HE ; Zhibin WU ; Jiandi YU ; Zhongwen FENG ; Mengxiang YANG ; Qifeng DOU ; Quan ZENG ; Yuanwei LI ; Xin GOU ; Guangchen ZHOU ; Xiaofeng WANG ; Rujian ZHU ; Zhonghua ZHANG ; Bo ZHANG ; Wanlong TAN ; Xueling QU ; Hongliang SUN ; Tianyi GAN ; Dingwei YE
Chinese Medical Journal 2023;136(10):1207-1215
BACKGROUND:
LY01005 (Goserelin acetate sustained-release microsphere injection) is a modified gonadotropin-releasing hormone (GnRH) agonist injected monthly. This phase III trial study aimed to evaluated the efficacy and safety of LY01005 in Chinese patients with prostate cancer.
METHODS:
We conducted a randomized controlled, open-label, non-inferiority trial across 49 sites in China. This study included 290 patients with prostate cancer who received either LY01005 or goserelin implants every 28 days for three injections. The primary efficacy endpoints were the percentage of patients with testosterone suppression ≤50 ng/dL at day 29 and the cumulative probability of testosterone ≤50 ng/dL from day 29 to 85. Non-inferiority was prespecified at a margin of -10%. Secondary endpoints included significant castration (≤20 ng/dL), testosterone surge within 72 h following repeated dosing, and changes in luteinizing hormone, follicle-stimulating hormone, and prostate specific antigen levels.
RESULTS:
On day 29, in the LY01005 and goserelin implant groups, testosterone concentrations fell below medical-castration levels in 99.3% (142/143) and 100% (140/140) of patients, respectively, with a difference of -0.7% (95% confidence interval [CI], -3.9% to 2.0%) between the two groups. The cumulative probabilities of maintaining castration from days 29 to 85 were 99.3% and 97.8%, respectively, with a between-group difference of 1.5% (95% CI, -1.3% to 4.4%). Both results met the criterion for non-inferiority. Secondary endpoints were similar between groups. Both treatments were well-tolerated. LY01005 was associated with fewer injection-site reactions than the goserelin implant (0% vs . 1.4% [2/145]).
CONCLUSION:
LY01005 is as effective as goserelin implants in reducing testosterone to castration levels, with a similar safety profile.
TRIAL REGISTRATION
ClinicalTrials.gov, NCT04563936.
Humans
;
Male
;
Antineoplastic Agents, Hormonal/therapeutic use*
;
East Asian People
;
Gonadotropin-Releasing Hormone/agonists*
;
Goserelin/therapeutic use*
;
Prostate-Specific Antigen
;
Prostatic Neoplasms/drug therapy*
;
Testosterone
7.Comparative analysis of modified STER and endoscopic submucosal excavation in the treatment of paracardial submucosal tumors
Yabo Zhou ; Kaiguang Zhang ; Guizhou Wang ; Baogang Chen ; Qifeng Lu ; Shuangping Wang ; Ziyan Dai
Acta Universitatis Medicinalis Anhui 2022;57(2):320-324
Abstract
To investigate the curative effects of modified submucosal tunnel endoscopic resection(STER) and endoscopic submucosal resection(ESE) in the treatment of paracardial submucosal tumors. Eighty-four patients with paracardial submucosal tumors diagnosed through digestive endoscopy and endoscopic ultrasonography signed informed consent forms, and they were randomly divided into observation group(n=42) and control group(n=42) with the help of the table of random numbers. Patients in the control group received ESE treatment. Patients in the observation group received modified STER surgery.The operation time, average hospitalization time and treatment cost of patients in STER group were(61.32±32.01) min,(8.11±2.42) d and(21.7±3.4) thousand Chinese Yuan respectively, which were better than those in ESE group(87.63±34.09) min,(10.05±2.84) d and(25.9±3.9) thousand Chinese Yuan. The difference was statistically significant(P<0.05). The average number of titanium clips used in the observation group was(5.00±1.37), and in the control group the average number was(4.68±1.25). The difference was not statistically significant. In the STER group, there were 2 cases of intraoperative perforation and 1 case of delayed bleeding. In the ESE group, there were 4 cases of intraoperative perforation and 3 cases of intraoperative uncontrollable bleeding. The incidence of postoperative complications in the STER group was lower than that in the ESE group. The postoperative pathological examination revealed that in both groups the tumors were mostly stromal tumor and leiomyoma. A few of the patients were suffering from lipomas and schwannomas. There was no significant difference in terms of the pathological composition of the patients between the two groups.
8.SP13786 Inhibits the Migration and Invasion of Lung Adenocarcinoma Cell A549 by Supressing Stat3-EMT via CAFs Exosomes.
Shushu WANG ; Jiayu CUI ; Kaijia ZHANG ; Jinhua GU ; Yuanhang ZHENG ; Baogang ZHANG ; Lihong SHI
Chinese Journal of Lung Cancer 2021;24(6):384-393
BACKGROUND:
Fibroblast activation protein (FAP) is one of the surface markers of cancer-associated fibroblasts (CAFs) and is closely related to the malignant characterization of CAFs. SP13786 is a specific micromolecule inhibitor of FAP and this study is to investigate the effects and mechanism of SP13786 on the migration and invasion of A549 cells through regulating exosomes of CAFs.
METHODS:
CAFs and paracancerous fibroblasts (PTFs) were isolated and subcultured from freshly resected lung adenocarcinoma tissues and paracancerous normal tissues separately. MTT assay was used to detect the proliferation of CAFs incubated by different concentrations of SP13786; PTFs-exo, CAFs-exo and CAFs+SP13786-exo were extracted by polymer precipitation method. The A549 cells were divided into Ctrl group, PTFs group, CAFs group and SP13786 group and each group was incubated with DMEM, PTFs-exo, CAFs-exo and CAFs+SP13786-exo separately. Laser confocal microscope was used to observe the endocytoses of exosomes by A549 cells. The expression of alpha-smooth muscle actin (α-SMA) and FAP in PTFs and CAFs and the expression of E-cadherin, N-cadherin, Slug, Stat3 and P-Stat3 in A549 cells were detected by immunofluorescence, immunohistochemistry and Western blot. The migration and invasion ability of A549 cells were detected by cell scratch and transwell methods.
RESULTS:
α-SMA and FAP were expressed much higher in CAFs than that in PTFs which indicate that CAFs and PTFs were successfully obtained from lung adenocarcinoma and paracancerous tissues (P<0.05). MTT showed that the 50% inhibitory concentration (IC50) of SP13786 for CAFs was about 3.3 nmol/L. In addition, SP13786 can significantly decrease the expression of α-SMA and FAP in CAFs which means that targeted inhibition of FAP could reduce the malignant characteristics of CAFs (P<0.05). Laser confocal microscope found that exosomes from CAFs could be taken up by A549 cells and scratch and transwell tests showed that the endocytosed CAFs-exo could promote the migration and invasion of A549 cells (P<0.001), while FAP inhibitor SP13786 could inhibit the effects of CAFs-exo on A549 cells (P<0.05). Furthermore, Immunofluorescence and Western blot showed that CAFs-exo could promote EMT by decreasing E-cadherin expression and increasing N-cadherin, Slug expression in A549 cells while FAP inhibitor SP13786 could significantly supress CAFs-exo-induced epithelial-mesenchymal transition (EMT) of A549 cells (P<0.05). Moreover, the expression of P-Stat3 was obviously increased in A549 cells of CAFs group and significantly down-regulated in SP13786 group (P<0.05) whereas there was no significant difference in total Stat3 between CAFs and SP13786 groups (P>0.05). Finally, WP1066 (a specific inhibitor of Stat3) was used to comfirm whether SP13786 could influence EMT of A549 cells by inhibiting Stat3 phosphorylation via CAFs-Exo. The results showed that when the phosphorylation of Stat3 in CAFs group was inhibited by WP1066, SP13786 could not influence the P-Stat3 expression and EMT of A549 cells anymore (P>0.05).
CONCLUSIONS
As a specific micromolecule inhibitor of FAP, SP13786 indirectly inhibits the migration and invasion of A549 cells by affecting exosomes of CAFs. The possible mechanism is to inhibit the phosphorylation of Stat3 and thus affect the EMT of A549 cells.
9.Delivery room resuscitation and short-term outcomes of extremely preterm and extremely low birth weight infants: a multicenter survey in North China.
Shuai-Jun LI ; Qi FENG ; Xiu-Ying TIAN ; Ying ZHOU ; Yong JI ; Yue-Mei LI ; Shu-Fen ZHAI ; Wei GUO ; Fang ZHANG ; Rong-Xiu ZHENG ; Hai-Ying HE ; Xia LIU ; Jun-Yi WANG ; Hua MEI ; Hong-Yun WANG ; Hua XIE ; Chao-Mei ZENG ; Li MA ; Ping-Ping ZHANG ; Jin-Yu LI ; Xiao-Ying WANG ; Li-Hua LI ; Hong CUI ; Shu-Lan YANG ; Lu CHEN ; Xiao-Hong GU ; Yan-Ju HU ; Sheng-Shun QUE ; Li-Xia SUN ; Ming YANG ; Wen-Li ZHAO ; Qiu-Yan MA ; Hai-Juan WANG ; Jiu-Ye GUO
Chinese Medical Journal 2021;134(13):1561-1568
BACKGROUND:
Delivery room resuscitation assists preterm infants, especially extremely preterm infants (EPI) and extremely low birth weight infants (ELBWI), in breathing support, while it potentially exerts a negative impact on the lungs and outcomes of preterm infants. This study aimed to assess delivery room resuscitation and discharge outcomes of EPI and ELBWI in China.
METHODS:
The clinical data of EPI (gestational age [GA] <28 weeks) and ELBWI (birth weight [BW] <1000 g), admitted within 72 h of birth in 33 neonatal intensive care units from five provinces and cities in North China between 2017 and 2018, were analyzed. The primary outcomes were delivery room resuscitation and risk factors for delivery room intubation (DRI). The secondary outcomes were survival rates, incidence of bronchopulmonary dysplasia (BPD), and risk factors for BPD.
RESULTS:
A cohort of 952 preterm infants were enrolled. The incidence of DRI, chest compressions, and administration of epinephrine was 55.9% (532/952), 12.5% (119/952), and 7.0% (67/952), respectively. Multivariate analysis revealed that the risk factors for DRI were GA <28 weeks (odds ratio [OR], 3.147; 95% confidence interval [CI], 2.082-4.755), BW <1000 g (OR, 2.240; 95% CI, 1.606-3.125), and antepartum infection (OR, 1.429; 95% CI, 1.044-1.956). The survival rate was 65.9% (627/952) and was dependent on GA. The rate of BPD was 29.3% (181/627). Multivariate analysis showed that the risk factors for BPD were male (OR, 1.603; 95% CI, 1.061-2.424), DRI (OR, 2.094; 95% CI, 1.328-3.303), respiratory distress syndrome exposed to ≥2 doses of pulmonary surfactants (PS; OR, 2.700; 95% CI, 1.679-4.343), and mechanical ventilation ≥7 days (OR, 4.358; 95% CI, 2.777-6.837). However, a larger BW (OR, 0.998; 95% CI, 0.996-0.999), antenatal steroid (OR, 0.577; 95% CI, 0.379-0.880), and PS use in the delivery room (OR, 0.273; 95% CI, 0.160-0.467) were preventive factors for BPD (all P < 0.05).
CONCLUSION
Improving delivery room resuscitation and management of respiratory complications are imperative during early management of the health of EPI and ELBWI.
Birth Weight
;
Bronchopulmonary Dysplasia
;
China/epidemiology*
;
Delivery Rooms
;
Female
;
Gestational Age
;
Humans
;
Infant
;
Infant, Extremely Low Birth Weight
;
Infant, Extremely Premature
;
Infant, Newborn
;
Male
;
Pregnancy
10.Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family.
Jinghe CAO ; Jianwei LI ; Yuqin ZHANG ; Huanfu NIU ; Yongan ZHOU ; Zhe LI ; Baogang SUN ; Zewu LI
Chinese Journal of Medical Genetics 2021;38(8):765-767
OBJECTIVE:
To explore the genetic basis for a case of Lamb-Shaffer syndrome.
METHODS:
Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing(WES). Suspected variant was verified by Sanger sequencing.
RESULTS:
The patients was found to harbor a heterozygous c.1495delA(p.Thr499Glnfs*5) frameshift variant of the SOX5 gene by WES. Sanger sequencing confirmed that the same variant was a de novo variant. Based on the American College of Medical Genetics and Genomics guidelines, c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene was predicted to be pathogenic (PVS1+PS2+PM2).
CONCLUSION
The c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene probably underlies the Lamb-Shaffer syndrome in this patient.
Animals
;
Genomics
;
Heterozygote
;
Humans
;
Mutation
;
SOXD Transcription Factors/genetics*
;
Sheep
;
Whole Exome Sequencing


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