Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Adam Jackson,Celia Moss,Kate E Chandler,Pablo Lopez Balboa,Maria L Bageta,Gabriela Petrof,Anna E Martinez,Lu Liu,Alyson Guy,Jemima E Mellerio,John Y W Lee,Malobi Ogboli,Gavin Ryan,John A McGrath,Siddharth Banka

The British journal of dermatology（2023）

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摘要

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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