Bi-allelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects
The British journal of dermatology（2024）
Abstract
Biallelic loss-of-function TUFT1 variants cause a new autosomal recessive skin/hair disorder characterized by woolly hair texture and early-onset skin fragility. Tuftelin-1 has a role in desmosomal integrity and function.
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