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

Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G, McGrath JA, Banka S. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. Br J Dermatol. 2023 Jan 23; 188(1):75-83.

View in: PubMed