Ontology highlight
ABSTRACT:
SUBMITTER: Sheehan-Rooney K
PROVIDER: S-EPMC3759348 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Sheehan-Rooney Kelly K Swartz Mary E ME Zhao Feng F Liu Dong D Eberhart Johann K JK
Disease models & mechanisms 20130529 5
The severity of most human birth defects is highly variable. Our ability to diagnose, treat and prevent defects relies on our understanding of this variability. Mutation of the transcription factor GATA3 in humans causes the highly variable hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome. Although named for a triad of defects, individuals with HDR can also exhibit craniofacial defects. Through a forward genetic screen for craniofacial mutants, we isolated a zebrafis ...[more]