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

Genomics England Res Consortium

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

Genomics England Res Consortium

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Pages (from-to)	74-74
Number of pages	1
Journal	European Journal of Human Genetics
Volume	32
Publication status	Published - Jan 2024

Cite this

@article{f3324d8cde2f4c4eb49c71ff3a230642,

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

author = "\{Genomics England Res Consortium\} and A Jackson and Celia Moss and K Chandler and PL Balboa and ML Bageta and G Petrof and A Martinez and L Lu and A Guy and J Mellerio and J Lee and M Ogboli and G Ryan and JA McGrath and S Banka",

year = "2024",

month = jan,

language = "English",

volume = "32",

pages = "74--74",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

}

TY - JOUR

T1 - Bi-allelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

AU - Genomics England Res Consortium

AU - Jackson, A

AU - Moss, Celia

AU - Chandler, K

AU - Balboa, PL

AU - Bageta, ML

AU - Petrof, G

AU - Martinez, A

AU - Lu, L

AU - Guy, A

AU - Mellerio, J

AU - Lee, J

AU - Ogboli, M

AU - Ryan, G

AU - McGrath, JA

AU - Banka, S

PY - 2024/1

Y1 - 2024/1

UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001147414900168&DestLinkType=FullRecord&DestApp=WOS_CPL

M3 - Meeting Abstract

SN - 1018-4813

VL - 32

SP - 74

EP - 74

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

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

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