Article
Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
Archives of dermatology - 1 Oct 1993
Petty E M, Seashore M R, Braverman I M, Spiesel S Z, Smith L T, Milstone L M
Abstract excerpt
BACKGROUND: Dermatosparaxis is an autosomal recessive connective tissue disorder in animals that is caused by abnormal processing of type I procollagen and results in skin laxity and fragility. Only three humans with characteristic biochemical and electronmicroscopic findings have been recognized to date. OBSERVATIONS: We describe the clinical and electronmicroscopic findings in an affected boy who presented at...
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