Article
Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.
American journal of medical genetics. Part A - 1 Jun 2021
Battaglia Agatino, Lortz Amanda, Carey John C
Abstract excerpt
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder, clinically delineated by prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The disorder is caused by partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). Although more than 300 persons with WHS have been reported in the literature, there is sparse,...
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