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Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica

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1 Published in 2022 at "Pediatric Dermatology"

DOI: 10.1111/pde.15197

Abstract: Enterokinase deficiency (EKD) is a rare autosomal recessive inherited disorder caused by loss‐of‐function mutations of the transmembrane protease serine 15 (TMPRSS15) gene. To date, only 12 cases of EKD have been described in the literature… read more here.

Keywords: tmprss15 gene; gene; enterokinase deficiency; acrodermatitis enteropathica ... See more keywords