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Article

Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.

Clinical genetics - 1 Jul 2021

Mahmoud Ranim, Leonenko Anna, Butler Merlin G, Flodman Pamela, Gold June-Anne, Miller Jennifer L, Roof Elizabeth, Dykens Elisabeth, Driscoll Daniel J, Kimonis Virginia

Abstract excerpt

Prader-Willi syndrome (PWS) is a complex genetic disorder with three molecular classes but clinical ascertainment is based on distinctive features. The prevalence of dysmorphic features was studied in 355 PWS participants (61% deletion, 36% maternal disomy [UPD], and 3% imprinting defects) from the National Institute of Health PWS Rare Diseases Clinical Research Network. The effect of growth hormone (GH)...

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Identifiers

PMID: 33615449
DOI: 10.1111/cge.13947
PMCID: PMC8568051

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