Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

McElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G G; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C; Shcherbak, Yuliya; Leger, Juliane; Sallai, Agnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu

doi:10.1038/s41436-019-0606-y

Scientific article

English

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Published inGenetics in Medicine

Publication date2019

Abstract

XY individuals with disorders/differences of sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or testis regression during fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown.

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research groups

Mécanismes moléculaires et génétiques du développement sexuel (778)

Citation (ISO format)

MCELREAVEY, Ken et al. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. In: Genetics in Medicine, 2019. doi: 10.1038/s41436-019-0606-y

Article (Published version)

CC BY

Identifiers

PID : unige:122445
DOI : 10.1038/s41436-019-0606-y
PMID : 31337883

Journal ISSN1098-3600

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Creation30/08/2019 11:35:00

First validation30/08/2019 11:35:00

Update15/03/2023 17:57:26

Status update15/03/2023 17:57:23

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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

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