Article
Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.
Clinical and experimental dermatology - 1 Aug 2012
Fong K, Rama Devi A R, Lai-Cheong J E, Chirla D, Panda S K, Liu L, Tosi I, McGrath J A
Abstract excerpt
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive genetic disorder characterized by dermal and subcutaneous fibromatosis, joint contractures and bone deformities. The condition usually presents at birth, resulting in death in infancy. ISH is caused by mutations in the anthrax toxi...
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