Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis

BACKGROUND: Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterised by coarse, wiry, twisted hair developed in early childhood and subsequent progressive hair loss. MUHH is a genetically heterogeneous disorder. No gene in 1p21.1–1q21.3 region responsible for MUHH h...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Xin, Guo, Bi-Rong, Cai, Li-Qiong, Jiang, Tao, Sun, Liang-Dan, Cui, Yong, Hu, Jing-Chu, Zhu, Jun, Chen, Gang, Tang, Xian-Fa, Sun, Guang-Qing, Tang, Hua-Yang, Liu, Yuan, Li, Min, Li, Qi-Bin, Cheng, Hui, Gao, Min, Li, Ping, Yang, Xu, Zuo, Xian-Bo, Zheng, Xiao-Dong, Wang, Pei-Guang, Wang, Jian, Wang, Jun, Liu, Jian-Jun, Yang, Sen, Li, Ying-Rui, Zhang, Xue-Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2012
Materias:
New Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512347/
https://www.ncbi.nlm.nih.gov/pubmed/23099647
http://dx.doi.org/10.1136/jmedgenet-2012-101134

Ejemplares similares

Ejemplares similares