Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report

Dyschromatosis universalis hereditaria (DUH) is an uncommon form of pigmented genodermatosis that is typically inherited autosomally and dominantly. In the previous study, the pathogenic genes of DUH have been identified in ATP-binding cassette subfamily B, member 6 and SASH1. However, the mutationa...

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Detalles Bibliográficos
Autores principales: Yang, Yue, Jiang, Nan, Mai, Jing Qun, Yang, Shuo, Xiao, Yuanyuan, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402963/
https://www.ncbi.nlm.nih.gov/pubmed/37543808
http://dx.doi.org/10.1097/MD.0000000000034448

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402963/
https://www.ncbi.nlm.nih.gov/pubmed/37543808
http://dx.doi.org/10.1097/MD.0000000000034448

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