A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site

In this study, we detected homozygous mutations in the CYP17A1 gene (NM_000102.4:c.1053_1055delCCT; p.Leu353del; SCV001479329) in a 28-year-old female patient (46,XX) and her phenotypically female 30-year-old sister (46,XY) who had phenotypes consistent with combined 17-hydroxylase and 17,20-lyase d...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Habib, Ashkan, Shojazadeh, Alireza, Molayemat, Mohadeseh, Jafari Khamirani, Hossein, Zoghi, Sina, Dastgheib, Seyed Alireza, Habib, Asadollah
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8295247/
https://ncbi.nlm.nih.gov/pubmed/34290232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00160-y
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