Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples

Differences of sex development (DSDs) are a group of congenital conditions characterized by a discrepancy between chromosomal, gonadal, and genital sex development of an individual, with significant impact on medical, psychological and reproductive life. The genetic heterogeneity of DSDs complicates...

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Veröffentlicht in:	European journal of medical genetics 2023-06, Vol.66 (6), p.104748-104748, Article 104748
Hauptverfasser:	Mary, L., Fradin, M., Pasquier, L., Quelin, C., Loget, P., Le Lous, M., Le Bouar, G., Nivot-Adamiak, S., Lokchine, A., Dubourg, C., Jauffret, V., Nouyou, B., Henry, C., Launay, E., Odent, S., Jaillard, S., Belaud-Rotureau, M.A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aneuploidy Chromosomal imbalance Chromosomes CMA CNV DNA Copy Number Variations DSD Female Genetics Genital Humans Life Sciences Mosaicism Pregnancy Prenatal Prenatal Diagnosis - methods Retrospective Studies Translocation, Genetic
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