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Article

Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.

American journal of medical genetics. Part A - 1 Jul 2021

Carey John C, Lortz Amanda, Mendel Alyssa, Battaglia Agatino

Abstract excerpt

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder consisting of prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The condition is caused by a partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). While there are many reports of individuals with WHS, useful data on long-term survival and life status...

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Identifiers

PMID: 33949758
DOI: 10.1002/ajmg.a.62220

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