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Autosomal Dominant Osteopetrosis

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Description: Clinical Severity and Natural History of 94 Subjects with a Chloride Channel 7 Gene Mutation
Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations of this disease have not been well characterized since the discovery of the genetic basis of ADO.

Steven G. Waguespack, Siu L. Hui, Linda A. DiMeglio and Michael J. Econs 2007 The Journal of Clinical Endocrinology & Metabolism Vol. 92, No. 3 771-778 Full text

Type: Reference Material
Author/Contact: Waguespack
Institution: JCEM
Primary Subject/Category:

Language: English

Submitted by: admin
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Added: Mon Jun 22 2009