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

BRITISH JOURNAL OF DERMATOLOGY

WILEY

1. Newcastle NIHR Biomedical Research Centre (BMRC)
2. Strategic Positioning Fund on Genetic Orphan Diseases from the BMRC, A*STAR, Singapore
3. Nanyang Technological University Undergraduate Research Experience on Campus (URECA) Programme