A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

Andrew Cassidy, Maurice A. M. van Steensel, Peter M. Steijlen, Michel van Geel, Jaap van der Velden, Susan Morley, Alessandro Terrinoni, Gerry Melino, Eleonora Candi, Irwin McLean (Lead / Corresponding author)

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Medicine and Dentistry

Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology