Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene

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 si...

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Veröffentlicht in:	Pediatrics (Evanston) 2006-11, Vol.118 (5), p.2210
Hauptverfasser:	Shieh, Joseph T.C, Swidler, Petra, Martignetti, John A, Ramirez, Maria Celeste M, Balboni, Imelda, Kaplan, Julie, Kennedy, Jeanette, Omar, Abdul-Rahman, Enns, Gregory M, Sandborg, Christy, Slavotinek, Anne, Hoyme, H. Eugene
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Anthrax Biological & chemical terrorism Children & youth Diagnosis Genes Genetic disorders Genetic testing Mutation Pediatrics Toxins
Online-Zugang:	Volltext
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