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This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.

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.

This review discusses madarosis, its diverse causes, and suggests follicular unit transplantation as a useful treatment for scarring types, but reports no new clinical results.

This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.

This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.