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Article

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.

Journal of medical genetics - 1 Mar 2019

Butler Merlin G, Hartin Samantha N, Hossain Waheeda A, Manzardo Ann M, Kimonis Virginia, Dykens Elisabeth, Gold June Anne, Kim Soo-Jeong, Weisensel Nicolette, Tamura Roy, Miller Jennifer L, Driscoll Daniel J

Abstract excerpt

BACKGROUND: Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects. METHODS: High-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29730598
DOI: 10.1136/jmedgenet-2018-105301
PMCID: PMC7387113

Provenance

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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