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Article

Clinical and genetic features of Prader-Willi syndrome in China.

European journal of pediatrics - 1 Jan 2014

Lu Wei, Qi Yan, Cui Bing, Chen Xiu-Li, Wu Bing-Bing, Chen Chao, Cao Yun, Zhou Wen-Hao, Xu Hong, Luo Fei-Hong

Abstract excerpt

UNLABELLED: We set out to delineate the phenotypic and genotypic characteristics of Prader-Willi syndrome (PWS), a congenital neurodevelopmental disorder caused by the lack of expression of the paternally inherited imprinted genes on chromosome 15q11-13 in 31 Chinese patients. They were genotyped to identify deletions using methylation-specific polymerase chain reaction analysis and subsequent...

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PMID: 23933672
DOI: 10.1007/s00431-013-2124-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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