Article
Wolf-Hirschhorn syndrome: A case series from India.
American journal of medical genetics. Part A - 1 Dec 2020
Chaudhry Chakshu, Kaur Anit, Panigrahi Inusha, Kaur Anupriya
Abstract excerpt
Wolf-Hirschhorn syndrome (WHS) (OMIM#194190) is a contiguous gene syndrome with estimated prevalence being around 1 in 50,000 births. The syndrome is caused by deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, or developmental delay and seizures. We describe four patients,...
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