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

    Amanda Barone Pritchard, Stanley M. Kanai, Bryan L. Krock … David E. Clouthier
    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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