ロード中...

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a...

詳細記述

保存先:
書誌詳細
出版年:Hum Genome Var
主要な著者: Altaraihi, M., Wadt, K., Ek, J., Gerdes, A. M., Ostergaard, E.
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6384928/
https://ncbi.nlm.nih.gov/pubmed/30820324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0041-2
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!