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Article

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

American journal of medical genetics. Part A - 1 May 2020

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

Abstract excerpt

Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, GNAI3, PCLB4, and EDN1 cause Mandibulofacial Dysostosis with Alopecia (MFDA), Auriculocondylar syndrome (ARCND) 1, 2, and 3, respectively. However, cardiovascular development is normal in MFDA and ARCND individuals, unlike Ednra knockout mice....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32133772
DOI: 10.1002/ajmg.a.61531
PMCID: PMC7202054

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