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AB058. Prader-Willi syndrome: clinical and genetic features

BACKGROUND: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that results from the lack of expression of paternal inherited imprinted genes on chromosome 15q11-13. PWS is characterized by severe infantile hypotonia; hypogonadism; obesity and hyperphagia; developmental delay, cha...

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Bibliographic Details
Published in:Ann Transl Med
Main Author: Thuy, Lan An
Format: Artigo
Language:Inglês
Published: AME Publishing Company 2017
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641720/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s058
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