A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

BACKGROUND: Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized with nail dystrophy and palmoplantar keratoderma (PPK). The most prominent man...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Yue, Wang, Yumeng, Ming, Yan, Chaolan, Pan, Jia, Zhang, Cheng, Ni, Qiaoyu, Cao, Li, Ming, Tianyi, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559371/
https://www.ncbi.nlm.nih.gov/pubmed/34724947
http://dx.doi.org/10.1186/s12920-021-01109-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559371/
https://www.ncbi.nlm.nih.gov/pubmed/34724947
http://dx.doi.org/10.1186/s12920-021-01109-4

Ejemplares similares