Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

M. Baxter, Ruth; A. Arboleda, Valerie; Lee, Hane; Barseghyan, Hayk; P Adam, Margaret; Y. Fechner, Patricia; Bargman, Renee; E. Keegan, Catherine; Travers, Sharon; Schelley, Susan; Hudgins, Louanne; P. Mathew, Revi; J. Stalker, Heather; Zori, Roberto; Gordon, Ora; Ramos‐Platt, Leigh; Pawlikowska‐Haddal, Anna; Eskin, Ascia; F. Nelson, Stanley; C. Délot, Emmanuèle; Vilain, Éric

doi:10.1210/jc.2014-2605

Public

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Published in The Journal of Clinical Endocrinology & Metabolism • Nov 10, 2014

Authors:

Ruth M. Baxter

Valerie A. Arboleda

Hane Lee

Abstract

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...

Subject

Exome sequencing

Computational biology

Disorders of sex development

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