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Article

Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.

American journal of medical genetics. Part A - 1 Jan 2020

Oldzej Jeannine, Manazir Javeria, Gold June-Anne, Mahmoud Ranim, Osann Kathryn, Flodman Pamela, Cassidy Suzanne B, Kimonis Virginia E

Abstract excerpt

Prader-Willi syndrome (PWS) affects 1/15,000-1/30,000 live births and is characterized by lack of expression of paternally inherited genes on 15q11.2-15q13 caused by paternal deletions, maternal uniparental disomy (UPD), or imprinting defects. Affected individuals have distinct physical features, and growth hormone (GH) deficiency occurs in some individuals with PWS. The aim of this study is to test the...

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Source

Identifiers

PMID: 31782896
DOI: 10.1002/ajmg.a.61408

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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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