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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Detalles Bibliográficos
Autores principales: Almaramhy, Hamdi Hameed, Abdul Samad, Firoz, Al-Harbi, Ghadeer, Zaytuni, Dimah, Imam, Syed Nazar, Masoodi, Tariq, Shamsi, Monis Bilal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297146/
https://www.ncbi.nlm.nih.gov/pubmed/37384334
http://dx.doi.org/10.3389/fgene.2023.1106933

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