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Article

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.

The Journal of clinical endocrinology and metabolism - 1 Mar 2007

Waguespack Steven G, Hui Siu L, Dimeglio Linda A, Econs Michael J

Abstract excerpt

CONTEXT: 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. OBJECTIVES: The primary objectives were to improve our understanding of ADO clinical characteristics and to study the natural history of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17164308
DOI: 10.1210/jc.2006-1986

Genes

ADO
CLCN7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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