Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome
March 2020
in “
American Journal of Medical Genetics Part A
”
Studysummary This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
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