Article
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
The Journal of clinical endocrinology and metabolism - 1 Feb 2015
Baxter Ruth M, Arboleda Valerie A, Lee Hane, Barseghyan Hayk, Adam Margaret P, Fechner Patricia Y, Bargman Renee, Keegan Catherine, Travers Sharon, Schelley Susan, Hudgins Louanne, Mathew Revi P, Stalker Heather J, Zori Roberto, Gordon Ora K, Ramos-Platt Leigh, Pawlikowska-Haddal Anna, Eskin Ascia, Nelson Stanley F, Délot Emmanuèle, Vilain Eric
Abstract excerpt
CONTEXT: Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of an individual. Such conditions can be stressful for patients and their families and have historically been difficult to diagnose, especially at the genetic level. In particular, for cases of 46,XY gonadal dysgenesis, once variants in SRY and...
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