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

dc.contributor.author	McElreavey, Ken
dc.contributor.author	Jorgensen, Anne
dc.contributor.author	Eozenou, Caroline
dc.contributor.author	Merel, Tiphanie
dc.contributor.author	Bignon-Topalovic, Joelle
dc.contributor.author	Tan, Daisylyn Senna
dc.contributor.author	Houzelstein, Denis
dc.contributor.author	Buonocore, Federica
dc.contributor.author	Warr, Nick
dc.contributor.author	Kay, Raissa G. G.
dc.contributor.author	Peycelon, Matthieu
dc.contributor.author	Siffroi, Jean-Pierre
dc.contributor.author	Mazen, Inas
dc.contributor.author	Achermann, John C.
dc.contributor.author	Shcherbak, Yuliya
dc.contributor.author	Leger, Juliane
dc.contributor.author	Sallai, Ágnes
dc.contributor.author	Carel, Jean-Claude
dc.contributor.author	Martinerie, Laetitia
dc.contributor.author	Le Ru, Romain
dc.contributor.author	Conway, Gerard S.
dc.contributor.author	Mignot, Brigitte
dc.contributor.author	Van Maldergem, Lionel
dc.contributor.author	Bertalan, Rita
dc.contributor.author	Globa, Evgenia
dc.contributor.author	Brauner, Raja
dc.contributor.author	Jauch, Ralf
dc.contributor.author	Nef, Serge
dc.contributor.author	Greenfield, Andy
dc.contributor.author	Bashamboo, Anu
dc.date.accessioned	2020-10-08T08:10:47Z
dc.date.available	2020-10-08T08:10:47Z
dc.date.issued	2020
dc.identifier.citation	journalVolume=21;journalIssueNumber=1;journalTitle=GENETICS IN MEDICINE;pagerange=150-159;journalAbbreviatedTitle=GEN MED;
dc.identifier.uri	http://repo.lib.semmelweis.hu//handle/123456789/8105
dc.identifier.uri	doi:10.1038/s41436-019-0606-y
dc.relation.ispartof	urn:issn:1098-3600
dc.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
dc.type	Journal Article
dc.date.updated	2020-01-08T14:06:13Z
dc.language.rfc3066	en
dc.rights.holder	NULL
dc.identifier.mtmt	30752055
dc.identifier.pubmed	31337883
dc.contributor.department	SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution	Semmelweis Egyetem