Associated Papers
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.
Kurihara Y et al.
The Journal of Clinical Investigation, 2023
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Kanai SM et al.
Disease Models & Mechanisms, 2022
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
Pritchard AB et al.
American Journal of Medical Genetics. Part A, 2020
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Gordon CT et al.
American Journal of Human Genetics, 2015
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