Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Eggers, Stefanie; Sadedin, Simon; A. van den Bergen, Jocelyn; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; S. Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid; Yang Tan, Tiong; Cameron, Fergus; A. Werther, George; Hutson, John; A. O’Connell, Michele; Grover, Sonia; Héloury, Yves; Zacharin, Margaret; Bergman, Philip; Kimber, Chris; Brown, Justin; Webb, Nathalie; F. Hunter, Matthew; Srinivasan, Shubha; Titmuss, Angela; F. Verge, Charles; Mowat, David; Smith, Grahame; Smith, Janine; Ewans, Lisa; Shalhoub, Carolyn; Crock, Patricia; Cowell, Chris; M. Leong, Gary; Ono, Makato; Lafferty, Antony; Huynh, Tony; Visser, Uma; S. Choong, Catherine; Ellis McKenzie, F.; Pachter, Nicholas; M. Thompson, Elizabeth; Couper, Jennifer; Baxendale, Anne; Gécz, Jozef; J. Wheeler, Benjamin; Jefferies, Craig; E. MacKenzie, Karen; L. Hofman, Paul; Carter, Philippa; King, Richard; Krausz, Csilla; M.A. van Ravenswaaij‐Arts, Conny; H. J. Looijenga, Leendert; L S Drop, S; Riedl, Stefan; Cools, Martine; J. Dawson, Angelika; Zulfa Juniarto, Achmad; Khadilkar, Vaman; Khadilkar, Anuradha; Bhatia, Vijayalakshmi; Chí Dũng, Vũ; Atta, Irum; Raza, Jamal; Thi Diem, Nguyen; Kiem Hao, Tran; R. Harley, Vincent; Koopman, Peter; L. Warne, Garry; MH Faradz, Sultana; Oshlack, Alicia; Ayers, Katie; Sinclair, Andrew

doi:10.1186/s13059-016-1105-y

Public

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Published in Genome biology • Nov 29, 2016

Authors:

Stefanie Eggers

Simon Sadedin

Jocelyn A. van den Bergen

Abstract

BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a ...

Subject

Biology

Human genetics

Genome Biology

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