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

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第一作者： Adam,Jackson

第一单位： Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.

作者： Adam,Jackson ^[1] ; Celia,Moss ^[2] ; Kate E,Chandler ^[1] ; Pablo Lopez,Balboa ^[3] ; Maria L,Bageta ^[3] ; Gabriela,Petrof ^[3] ; Anna E,Martinez ^[3] ; Lu,Liu ^[4] ; Alyson,Guy ^[4] ; Jemima E,Mellerio ^[5] ; John Y W,Lee ^[5] ; Malobi,Ogboli ^[2] ; Gavin,Ryan ^[6] ; Genomics England Research Consortium ^[5] ; John A,McGrath ^[1] ; Siddharth,Banka

作者单位： Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK. ^[1] Department of Dermatology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK. ^[2] Department of Dermatology, Great Ormond Street Hospital NHS Foundation Trust, London, UK. ^[3] Viapath, National Diagnostic Epidermolysis Bullosa Laboratory, Guy's Hospital, London, UK. ^[4] St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK. ^[5] West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK. ^[6]