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

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....

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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
disorders/differences in sex development (DSD)
gonadal dysgenesis
genetic etiology
digenic/oligogenic
testis
ovary
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.900574/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.900574/full

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