Article
Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2008
Maranda Bruno, Chabot Gilles, Décarie Jean-Claude, Pata Monica, Azeddine Bouziane, Moreau Alain, Vacher Jean
Abstract excerpt
UNLABELLED: Infantile ARO is a genetic disorder characterized by osteoclast dysfunction that leads to osteopetrosis. We describe a novel mutation affecting the OSTM1 locus responsible for ARO. In addition to common clinical features of osteopetrosis, the patient developed a unique neuronal pathology that provided evidence for an essential role of OSTM1 in normal neuronal cell development. INTRODUCTION: Infantile...
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