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

Pritchard AB, Kanai SM, Krock B, Schindewolf E, Oliver-Krasinski J, Khalek N, Okashah N, Lambert NA, Tavares ALP, Zackai E, Clouthier DE. Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome. Am J Med Genet A. 2020 05; 182(5):1104-1116.

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