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Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review

Prader–Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems. Usually PWS occurs sporadically due to the loss of paternally expressed genes on chromosome 1...

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Détails bibliographiques
Publié dans:Am J Med Genet A
Auteurs principaux: Hartin, Samantha N., Hossain, Waheeda A., Weisensel, Nicolette, Butler, Merlin G.
Format: Artigo
Langue:Inglês
Publié: 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688622/
https://ncbi.nlm.nih.gov/pubmed/29437285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38627
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