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

Internet

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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