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MeSH:(Keratoderma, Palmoplantar/genetics*)

3.Present status of the molecular genetics in epidermolytic palmoplantar keratoderma.

Xian-ning ZHANG ; Wei MAO ; Xin-hui HE ; Zheng LAI

Chinese Journal of Medical Genetics 2004;21(4):372-375

4.Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.

Zhong-Yu YUAN ; Li-Ting CHENG ; Ze-Feng WANG ; Yong-Quan WU

Chinese Medical Journal 2021;134(15):1771-1779

5.Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome.

Jian LU ; Rong HU ; Ling LIU ; Hongke DING

Chinese Journal of Medical Genetics 2021;38(7):674-677

6.The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype.

Shasha HUANG ; Bangqing HUANG ; Yongyi YUAN ; Guojian WANG ; Pu DAI

Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2014;28(22):1744-1747

7.Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family.

Xia SUN ; Xin-Zhen YIN ; Ling-Qian WU ; Xiao-Liu SHI ; Zheng-Mao HU ; Xiao-Ping LIU ; Qian PAN ; He-Ping DAI ; Kun XIA ; Jia-Hui XIA

Journal of Central South University(Medical Sciences) 2005;30(5):521-524

8.Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma.

Xiaohui TANG ; Xiaojing KANG ; Miao SUN ; Nuer DILI ; Yuhong HE ; Xiujuan WU ; Jianyong LIU ; Weidong WU ; Xiongming PU

Chinese Journal of Medical Genetics 2009;26(6):615-619

9.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

10.Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26.

Jae Yeol LEE ; Sung Il IN ; Hyon J KIM ; Seon Yong JEONG ; Yun Hoon CHOUNG ; You Chan KIM

Journal of Korean Medical Science 2010;25(10):1539-1542

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