Article
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
American journal of medical genetics. Part A - 1 Sept 2018
Ritter Alyssa L, McDougall Carey, Skraban Cara, Medne Livija, Bedoukian Emma C, Asher Stephanie B, Balciuniene Jorune, Campbell Colleen D, Baker Samuel W, Denenberg Elizabeth H, Mazzola Sarah, Fiordaliso Sarah K, Krantz Ian D, Kaplan Paige, Ierardi-Curto Lynne, Santani Avni B, Zackai Elaine H, Izumi Kosuke
Abstract excerpt
Xia-Gibbs syndrome (XGS) is a recently described neurodevelopmental disorder due to heterozygous loss-of-function AHDC1 mutations. XGS is characterized by global developmental delay, intellectual disability, hypotonia, and sleep abnormalities. Here we report the clinical phenotype of five of six individuals with XGS identified prospectively at the Children's Hospital of Philadelphia, a tertiary children's...
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