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

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

doi:10.1111/bjd.19799

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

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

^*Corresponding author for this work

Agency for Science, Technology and Research, Singapore
Nanyang Technological University
Newcastle University
National Institute for Health Research Biomedical Research Centre, University Hospitals Bristol NHS Foundation Trust and University of Bristol, Bristol, UK

Research output: Contribution to journal › Comment/Letter to the editor › Academic

12 Downloads (Pure)

Original language	English
Pages (from-to)	1205-1207
Number of pages	3
Journal	British journal of dermatology
Volume	184
Issue number	6
Early online date	2021
DOIs	https://doi.org/10.1111/bjd.19799
Publication status	Published - Jun 2021

Access to Document

10.1111/bjd.19799

Huriez-syndrome-caused-by-a-large-deletion-that-abrogates-the-skin-specific-isoform-of-smarcad1.pdfFinal published version, 3.26 MBLicence: CC BY

Cite this

@article{2dc9aa43509543f899bcb4d11ff81c96,

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

author = "Loh, \{A. Y. T.\} and Ho, \{C. M.\} and S. Muthiah and B. Venkatesh and S. Zwolinski and Bray, \{A. P. J. J.\} and B. Reversade and N. Rajan and Carney, \{T. J.\}",

note = "Funding Information: Funding sources: N.R. and S.M.{\textquoteright}s research is supported by the Newcastle NIHR Biomedical Research Centre (BMRC). B.R. is a fellow of the National Research Foundation, an A*STAR Investigator and Young EMBO Investigator. This work was in part supported by a Strategic Positioning Fund on Genetic Orphan Diseases from the BMRC, A*STAR, Singapore to B.R. and B.V. C.M.H received funding support from the Nanyang Technological University Undergraduate Research Experience on Campus (URECA) Programme.",

year = "2021",

month = jun,

doi = "10.1111/bjd.19799",

language = "English",

volume = "184",

pages = "1205--1207",

journal = "British journal of dermatology",

issn = "0007-0963",

publisher = "Wiley Blackwell",

number = "6",

}

TY - JOUR

T1 - Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1

AU - Loh, A. Y. T.

AU - Ho, C. M.

AU - Muthiah, S.

AU - Venkatesh, B.

AU - Zwolinski, S.

AU - Bray, A. P. J. J.

AU - Reversade, B.

AU - Rajan, N.

AU - Carney, T. J.

N1 - Funding Information: Funding sources: N.R. and S.M.’s research is supported by the Newcastle NIHR Biomedical Research Centre (BMRC). B.R. is a fellow of the National Research Foundation, an A*STAR Investigator and Young EMBO Investigator. This work was in part supported by a Strategic Positioning Fund on Genetic Orphan Diseases from the BMRC, A*STAR, Singapore to B.R. and B.V. C.M.H received funding support from the Nanyang Technological University Undergraduate Research Experience on Campus (URECA) Programme.

PY - 2021/6

Y1 - 2021/6

UR - https://www.scopus.com/pages/publications/85102238300

U2 - 10.1111/bjd.19799

DO - 10.1111/bjd.19799

M3 - Comment/Letter to the editor

C2 - 33400266

SN - 0007-0963

VL - 184

SP - 1205

EP - 1207

JO - British journal of dermatology

JF - British journal of dermatology

IS - 6

ER -

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

Access to Document

Other files and links

Cite this