Article
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
American journal of human genetics - 5 Jan 2017
Chao Hsiao-Tuan, Davids Mariska, Burke Elizabeth, Pappas John G, Rosenfeld Jill A, McCarty Alexandra J, Davis Taylor, Wolfe Lynne, Toro Camilo, Tifft Cynthia, Xia Fan, Stong Nicholas, Johnson Travis K, Warr Coral G, Yamamoto Shinya, Adams David R, Markello Thomas C, Gahl William A, Bellen Hugo J, Wangler Michael F, Malicdan May Christine V
Abstract excerpt
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration....
Topics
- Abnormalities, Multiple
- Ataxia
- Central Nervous System
- Child
- Child, Preschool
- Developmental Disabilities
- Female
- Genitalia
- Humans