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Article

Interferon Gamma, but not Calcitriol Improves the Osteopetrotic Phenotypes in ADO2 Mice.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2015

Alam Imranul, Gray Amie K, Acton Dena, Gerard-O'Riley Rita L, Reilly Austin M, Econs Michael J

Abstract excerpt

ADO2 is a heritable osteosclerotic disorder that usually results from heterozygous missense dominant negative mutations in the chloride channel 7 gene (CLCN7). ADO2 is characterized by a wide range of features and severity, including multiple fractures, impaired vision due to secondary bony overgrowth and/or the lack of the optical canal enlargement with growth, and osteonecrosis/osteomyelitis. The disease is...

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Identifiers

PMID: 25943708
DOI: 10.1002/jbmr.2545

Genes

CLCN7

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