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

Br J Dermatol. 2021 Jun;184(6):1205-1207. doi: 10.1111/bjd.19799. Epub 2021 Mar 10.

A Y T Loh^{1

2}, C M Ho³, S Muthiah⁴, B Venkatesh², S Zwolinski⁴, A P J J Bray⁵, B Reversade^{1

2}, N Rajan⁴, T J Carney^{2

3}

¹ Genome Institute of Singapore, Laboratory of Human Genetics and Therapeutics, A*STAR (Agency for Science, Technology and Research), 8A Biomedical Grove, Immunos, 138648, Singapore.
² Institute of Molecular and Cellular Biology (IMCB), A*STAR (Agency for Science, Technology and Research), 61 Biopolis Drive, Proteos, 138673, Singapore.
³ Lee Kong Chian School of Medicine, Experimental Medicine Building, Yunnan Garden Campus, Nanyang Technological University, 59 Nanyang Drive, 636921, Singapore.
⁴ Translational and Clinical Research Institute, Newcastle University, Centre for Life, Newcastle upon Tyne, NE1 7RU, UK.
⁵ Bristol Dermatology Centre, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

No abstract available

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