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.

View in: PubMed

subject areas

Animals
Craniofacial Abnormalities
Ear
Ear Diseases
Gene Expression Regulation, Developmental
Genetic Predisposition to Disease
GTP-Binding Protein alpha Subunits, Gi-Go
Humans
Loss of Function Mutation
Mandibulofacial Dysostosis
Mice
Mice, Knockout
Morphogenesis
Neural Crest
Phenotype
Receptor, Endothelin A
Signal Transduction

authors with profiles

David E. Clouthier
Stanley Michinobu Kanai