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BiallelicTUFT1variants 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,

British Journal of Dermatology（2022）

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关键词
woolly hair,superficial skin fragility,defects,variants
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