Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing

Nevoid basal cell carcinoma syndrome (NBCCS) is mainly characterised by multiple basal cell carcinomas (BCCs) caused by PTCH1, PTCH2, and SUFU. However, clinical and genetic data on Asian NBCCS patients are limited. We aimed to analyse the clinical phenotypes and genetic spectrum of Korean patients...

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Detalles Bibliográficos
Autores principales: Kim, Boram, Kim, Man Jin, Hur, Keunyoung, Jo, Seong Jin, Ko, Jung Min, Park, Sung Sup, Seong, Moon-Woo, Mun, Je-Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806620/
https://www.ncbi.nlm.nih.gov/pubmed/33441926
http://dx.doi.org/10.1038/s41598-020-80867-0

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