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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
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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
PMID: 31337883
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Article (Published version) (7.7 MB) - public document Free access
Structures
Research group Mécanismes moléculaires et génétiques du développement sexuel (778)
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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

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Deposited on : 2019-09-02

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