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

Abstract 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 17,2...

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Bibliographic Details
Main Authors: Ashkan Habib, Alireza Shojazadeh, Mohadeseh Molayemat, Hossein Jafari Khamirani, Sina Zoghi, Seyed Alireza Dastgheib, Asadollah Habib
Format: Article
Language:English
Published: Nature Publishing Group 2021-07-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00160-y