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, Genomics England Research Consortium, John A McGrath, Siddharth Banka

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Biochemistry, Genetics and Molecular Biology