Article
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
American journal of human genetics - 3 Dec 2020
Seu Katie G, Trump Lisa R, Emberesh Sana, Lorsbach Robert B, Johnson Clarissa, Meznarich Jessica, Underhill Hunter R, Chou Stella T, Sakthivel Haripriya, Nassar Nicolas N, Seu Kalani J, Blanc Lionel, Zhang Wenying, Lutzko Carolyn M, Kalfa Theodosia A
Abstract excerpt
The Congenital Dyserythropoietic Anemia (CDA) Registry was established with the goal to facilitate investigations of natural history, biology, and molecular pathogenetic mechanisms of CDA. Three unrelated individuals enrolled in the registry had a syndrome characterized by CDA and severe neurodevelopmental delay. They were found to have missense mutations in VPS4A, a gene coding for an ATPase that regulates the...
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