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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: Kim, Boram, Kim, Man Jin, Hur, Keunyoung, Jo, Seong Jin, Ko, Jung Min, Park, Sung Sup, Seong, Moon-Woo, Mun, Je-Ho
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2021
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7806620/
https://ncbi.nlm.nih.gov/pubmed/33441926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-80867-0
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