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Article

Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study.

American journal of medical genetics. Part A - 1 Mar 2007

Torrado Maria, Araoz Veronica, Baialardo Edgardo, Abraldes Karina, Mazza Carmen, Krochik Gabriela, Ozuna Blanca, Leske Vivian, Caino Silvia, Fano Virginia, Chertkoff Lilien

Abstract excerpt

Prader-Willi syndrome (PWS) is a multisystemic disorder caused by the loss of expression of paternally transcribed genes within chromosome 15q11-q13. Most cases are due to paternal deletion of this region; the remaining cases result from maternal uniparental disomy (UPD) and imprinting defects. To better understand the phenotypic variability of PWS, a genotype-phenotype correlation study was performed in 91...

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Identifiers

PMID: 17163531
DOI: 10.1002/ajmg.a.31520

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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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