AB058. Prader-Willi syndrome: clinical and genetic features
Annals of Translational Medicine(2017)
摘要
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, characteristic facial features, short stature; a distinctive behavioral phenotype. This study was performed to delineate the clinical and genetic features of patients diagnosed PWS at National Children’s Hospital, Hanoi, Vietnam.
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关键词
syndrome,genetic features,prader-willi
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