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Article

Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jun 2007

Lin Hsiang-Yu, Lin Shuan-Pei, Chuang Chih-Kuang, Chen Ming-Ren, Yen Jui-Lung, Lee Yann-Jinn, Huang Chi-Yu, Tsai Li-Ping, Niu Dau-Ming, Chao Mei-Chyn, Kuo Pao-Lin

Abstract excerpt

AIM: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS). METHODS: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 through July 2006 in five medical centres in Taiwan. Clinical manifestations were compared between patients with deletion and those with maternal uniparental...

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Identifiers

PMID: 17537021
DOI: 10.1111/j.1651-2227.2007.00284.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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