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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Detalles Bibliográficos
Autores principales: Zidoune, Housna, Ladjouze, Asmahane, Chellat-Rezgoune, Djalila, Boukri, Asma, Dib, Scheher Aman, Nouri, Nassim, Tebibel, Meryem, Sifi, Karima, Abadi, Noureddine, Satta, Dalila, Benelmadani, Yasmina, Bignon-Topalovic, Joelle, El-Zaiat-Munsch, Maeva, Bashamboo, Anu, McElreavey, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468775/
https://www.ncbi.nlm.nih.gov/pubmed/36110220
http://dx.doi.org/10.3389/fgene.2022.900574

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