Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria

BACKGROUND: Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mut...

Descripción completa

Detalles Bibliográficos
Autores principales: Cao, Lu, Zhang, Ruixue, Yong, Liang, Chen, Shirui, Zhang, Hui, Chen, Weiwei, Xu, Qiongqiong, Ge, Huiyao, Mao, Yiwen, Zhen, Qi, Yu, Yafen, Hu, Xia, Sun, Liangdan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236144/
https://www.ncbi.nlm.nih.gov/pubmed/34174894
http://dx.doi.org/10.1186/s12920-021-01014-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236144/
https://www.ncbi.nlm.nih.gov/pubmed/34174894
http://dx.doi.org/10.1186/s12920-021-01014-w

Ejemplares similares