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MeSH:(Skin Abnormalities/genetics*)

2.Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene.

Yiru CHEN ; Tianying NONG ; Weizhe SHI ; Jiangui LI ; Xuejiao DING ; Yue LI ; Mingwei ZHU ; Hongwen XU

Chinese Journal of Medical Genetics 2023;40(6):686-690

3.Phenotype and genetic variant analysis of seven pedigrees affected with blepharophimosis syndrome.

Zhouxian BAI ; Lina LIU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2021;38(11):1060-1063

4.Phenotypic and genetic analysis of a child with blepharophimosis, ptosis, epicanthus inverses syndrome and tetralogy of Fallot.

Xiangyu ZHU ; Yaping WANG ; Guangfeng ZHAO ; Leilei GU ; Jie LI ; Ruifang ZHU ; Yali HU

Chinese Journal of Medical Genetics 2015;32(5):670-673

5.Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.

Jia-Wei LIU ; Nuo SI ; Lian-Qing WANG ; Ti SHEN ; Xue-Jun ZENG ; Xue ZHANG ; Dong-Lai MA

Chinese Medical Journal 2015;128(10):1336-1339

6.Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES.

Liying AO ; Yongzhi LIU

Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2015;29(18):1660-1663

7.Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.

Ji Young CHOI ; Song Ee KIM ; Sang Eun LEE ; Soo Chan KIM

Yonsei Medical Journal 2018;59(2):341-344

8.Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome.

Xiaowen YANG ; Wen LI ; Juan DU ; Shimin YUAN ; Wenbin HE ; Qianjun ZHANG ; Changgao ZHONG ; Guangxiu LU ; Yueqiu TAN

Chinese Journal of Medical Genetics 2017;34(3):342-346

9.Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing.

Lin HU ; Huanzheng LI ; Zhaotang LUAN ; Xueqin XU ; Chong CHEN ; Ke WU ; Shaohua TANG

Chinese Journal of Medical Genetics 2017;34(2):209-212

10.Novel Mutations inGene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.

Cheng ZHOU ; Guang-Dong WEN ; Lwin Myint SOE ; Hong-Jun XU ; Juan DU ; Jian-Zhong ZHANG

Chinese Medical Journal 2016;129(23):2834-2839

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