Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome

    Amanda Barone Pritchard, Stanley M. Kanai, Bryan L. Krock, Erica Schindewolf, Jennifer Oliver‐Krasinski, Nahla Khalek, Najeah Okashah, Nevin A. Lambert, André L. P. Tavares, Elaine H. Zackai, David E. Clouthier
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    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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