Article
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
Pediatrics - 1 Nov 2006
Shieh Joseph T C, Swidler Petra, Martignetti John A, Ramirez Maria Celeste M, Balboni Imelda, Kaplan Julie, Kennedy Jeanette, Abdul-Rahman Omar, Enns Gregory M, Sandborg Christy, Slavotinek Anne, Hoyme H Eugene
Abstract excerpt
OBJECTIVE: We sought to further characterize the phenotype and facilitate clinical recognition of systemic hyalinosis in children who present with chronic pain and progressive contractures in early childhood. PATIENTS AND METHODS: We report on 3 children who presented in infancy with symptoms and signs that initially were not recognized to be those of systemic hyalinosis. Although the children were evaluated for...
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