Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

Summary Background Acral peeling skin syndrome (APSS) is a rare skin fragility disorder usually caused by mutations in the transglutaminase 5 gene (TGM5). Methods We investigated the mutation spectrum of APSS in the U.K., Germany and Poland. Results We identified 59 children with APSS from 52 famili...

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