An SNX10 mutation causes malignant osteopetrosis of infancy
Abstract
Background Osteopetrosis is a life-threatening, rare disorder typically resulting from osteoclast dysfunction and infrequently from failure to commitment to osteoclast lineage. Patients commonly present in infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, and bone marrow failure. In ∼70% of the patients there is a molecularly defined failure to maintain an acid pH at the osteoclast-bone interface (the ruffled...
Paper Details
Title
An SNX10 mutation causes malignant osteopetrosis of infancy
Published Date
Apr 1, 2012
Journal
Volume
49
Issue
4
Pages
221 - 226
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Notes
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