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Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

INTRODUCTION: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion (65–75 % of cases), maternal uniparental di...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Endocrinol Invest
Prif Awduron: Angulo, M. A., Butler, M. G., Cataletto, M. E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer International Publishing 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4630255/
https://ncbi.nlm.nih.gov/pubmed/26062517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s40618-015-0312-9
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