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Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review

Congenital poikiloderma is an extremely rare autosomal dominant genetic syndrome, characterized by a combination of early onset poikiloderma, telangiectasia, and epidermal atrophy. FAM111B gene with multiple mutations has been identified as a potential causative gene for congenital poikiloderma. In...

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Detalles Bibliográficos
Autores principales:	Wu, Yuhao, Wen, Long, Wang, Peiru, Wang, Xiuli, Zhang, Guolong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452834/ https://www.ncbi.nlm.nih.gov/pubmed/36092869 http://dx.doi.org/10.3389/fgene.2022.926451

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