Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases to identify causative genes. Mutation analysi...

Fuld beskrivelse

Bibliografiske detaljer

Principais autores:	LIU Juan, MO Ran, LIU Yihe, HUANG Xin, GAO Meng, YANG Yong, CHEN Zhiming
Format:	Artigo
Sprog:	Chinês
Udgivet:	Editorial Office of Journal of Rare Diseases 2023-04-01
Serier:	罕见病研究
Fag:	autosomal recessive congenital ichthyosis cers3 gene exon deletion acitretin
Online adgang:	https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.02.016
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!