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Title
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.
Authors
Hershkovitz, T; Hassoun, G; Indelman, M; Shlush, L I; Bergman, R; Pollack, S; Sprecher, E
Abstract
Prolidase deficiency is a complex disease characterized by various skin manifestations accompanied by mental retardation, facial dysmorphism and susceptibility to pyogenic infections.
Publication
Clinical and experimental dermatology, 2006, Vol 31, Issue 3, p435