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...

Descripción completa

Detalles Bibliográficos
Autores principales: Habib, Ashkan, Shojazadeh, Alireza, Molayemat, Mohadeseh, Jafari Khamirani, Hossein, Zoghi, Sina, Dastgheib, Seyed Alireza, Habib, Asadollah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295247/
https://www.ncbi.nlm.nih.gov/pubmed/34290232
http://dx.doi.org/10.1038/s41439-021-00160-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295247/
https://www.ncbi.nlm.nih.gov/pubmed/34290232
http://dx.doi.org/10.1038/s41439-021-00160-y

Ejemplares similares