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

Advanced search

Browse by...

Deposit

Highlights

More informations

Title		Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
Authors		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 show all authors [1 - 30]
Published in		Genetics in Medicine. 2019
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.
Identifiers		DOI: 10.1038/s41436-019-0606-y PMID: 31337883
Full text		Article (Published version) (7.7 MB) - Free access
Structures		Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement
Research group		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 https://archive-ouverte.unige.ch/unige:122445