Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing

Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing

Introduction: Hypospadias [MIM: 300633] is one of the most frequent congenital malformations of male external genitalia. The spectrum of genetic variants causing hypospadias is varied, with studies commonly implicating genes critical in the fetal steroidogenic pathway. This is the first genetic stud...

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Bibliographic Details
Main Authors: Hamdi Hameed Almaramhy, Firoz Abdul Samad, Ghadeer Al-Harbi, Dimah Zaytuni, Syed Nazar Imam, Tariq Masoodi, Monis Bilal Shamsi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Genetics
Subjects:
hypospadias
3β-hydroxysteroid dehydrogenase 2
genetic risk factors
whole-exome sequencing
Y-chromosome microdeletion
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1106933/full

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