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Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families

BACKGROUND: Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes KRT81, KRT83, or KRT86. Interestingly, an autosom...

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Detalles Bibliográficos
Autores principales: Zhou, Cheng, Wang, Pei, Yang, Dingquan, Liao, Wenjun, Guo, Qing, Li, Jiacheng, Wen, Guangdong, Zheng, Shuying, Zhang, Xue, Wang, Rongrong, Zhang, Jianzhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000931/
https://www.ncbi.nlm.nih.gov/pubmed/35146972
http://dx.doi.org/10.1002/mgg3.1889