The Journal of dermatologyHumansEast Asian PeopleHairHair DiseasesHeterozygote
A Missense Variant Within the Helix Termination Motif of KRT71 Causes Autosomal Dominant Woolly Hair/Hypotrichosis in a Chinese Family.
Xi Chen, Zhenzhen Wang, Xiaoxian Li, Guoyan Liu
Published: 202510.1111/1346-8138.17896
Abstract
Previous studies in dogs, cats, mice, and rats have established that KRT71 polymorphisms cause curly/wavy coat phenotypes. In humans, variants in the helix initiation motif of KRT71 are associated with woolly hair, a rare hereditary hair shaft disord…
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