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

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Authors: 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; Genomics England Research Consortium; John A McGrath, Siddharth Banka

Journal title: British Journal of Dermatology

Journal publisher: Blackwell Publishing Inc.

Published year: 2022

DOI identifier: 10.1093/bjd/ljac026

ISSN: 0007-0963