Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1

Journal article

Peer reviewed

A Y T Loh, C M Ho, S Muthiah, B Venkatesh, S Zwolinski, A P J J Bray, B Reversade, N Rajan and T J Carney

British journal of dermatology (1951), Vol.184(6), pp.1205-1207

06/2021

PMID: 33400266

Abstract

DNA Helicases - genetics

Female

Humans

Keratosis

Male

Pedigree

Protein Isoforms

Scleroderma, Localized

Skin Neoplasms

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Title: Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1
Creators - without role: A Y T Loh - Institute of Molecular and Cellular Biology (IMCB), ASTAR (Agency for Science, Technology and Research), 61 Biopolis Drive, Proteos, 138673, Singapore
C M Ho - Nanyang Technological University
S Muthiah - Centre for Life
B Venkatesh - Agency for Science, Technology and Research
S Zwolinski - Newcastle University
A P J J Bray - University Hospitals Bristol NHS Foundation Trust
B Reversade - Agency for Science, Technology and Research
N Rajan - Centre for Life
T J Carney - Agency for Science, Technology and Research
Publication Details: British journal of dermatology (1951), Vol.184(6), pp.1205-1207
Grant note: Agency for Science, Technology and Research National Institute for Health Research
Identifiers: 9942926808331
Academic Unit: King Abdullah University of Science & Technology
Language: English
Resource Type: Journal article