Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES) should result in an increased diagnostic yield....

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2022-08-01
Schriftenreihe:	Frontiers in Genetics
Schlagworte:	disorders/differences in sex development (DSD) gonadal dysgenesis genetic etiology digenic/oligogenic testis ovary
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fgene.2022.900574/full
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