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...

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Hlavní autoři:	LIU Juan, MO Ran, LIU Yihe, HUANG Xin, GAO Meng, YANG Yong, CHEN Zhiming
Médium:	Artigo
Jazyk:	Chinês
Vydáno:	Editorial Office of Journal of Rare Diseases 2023-04-01
Edice:	罕见病研究
Témata:	autosomal recessive congenital ichthyosis cers3 gene exon deletion acitretin
On-line přístup:	https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.02.016
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