Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Abstract
Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive CL, ARCL2, is frequently associated with variable metabolic and neurological symptoms. Progeroid symptoms, dysmorphic features, hypotonia and psychomotor retardation are highly overlapping in the early phase of these...
Paper Details
Title
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Published Date
Aug 21, 2013
Volume
22
Issue
7
Pages
888 - 895
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