Bi-allelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

被引：0

作者：

Jackson, Adam ^{[1
]}

Moss, Celia ^{[2
]}

Chandler, Kate ^{[3
]}

Balboa, Pablo Lopez ^{[4
]}

Bageta, Maria L. ^{[4
]}

Petrof, Gabriela ^{[4
]}

Martinez, Anne ^{[4
]}

Lu, Liu ^{[5
]}

Guy, Alyson ^{[5
]}

Mellerio, Jemima ^{[6
]}

Lee, John ^{[6
]}

Ogboli, Malobi ^{[2
]}

Ryan, Gavin ^{[7
]}

McGrath, John A. ^{[6
]}

Banka, Siddharth ^{[1
]}

机构：

[1] Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut Infect & Genom, Manchester, Lancs, England

[2] Birmingham Womens & Childrens NHS Fdn Trust, Birmingham Childrens Hosp, Dept Dermatol, Birmingham, W Midlands, England

[3] Manchester Univ NHS Fdn Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester, Lancs, England

[4] Great Ormond St Hosp NHS Fdn Trust, Dept Dermatol, London, England

[5] Guys Hosp, Natl Diag Epidermolysis Bullosa Lab, Viapath, London, England

[6] Kings Coll London, St Johns Inst Dermatol, Guys Campus, London, England

[7] Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Genet Lab, Birmingham, W Midlands, England

[8] Genom England, London, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C29.4

引用

页码：74 / 74

页数：1

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