Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.

doi:10.1359/jbmr.2003.18.10.1740

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Article

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Oct 2003

Frattini Annalisa, Pangrazio Alessandra, Susani Lucia, Sobacchi Cristina, Mirolo Massimiliano, Abinun Mario, Andolina Marino, Flanagan Adrienne, Horwitz Edwin M, Mihci Ercan, Notarangelo Luigi D, Ramenghi Ugo, Teti Anna, Van Hove Johan, Vujic Dragana, Young Terri, Albertini Alberto, Orchard Paul J, Vezzoni Paolo, Villa Anna

Abstract excerpt

UNLABELLED: Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations in the ClCN7 gene, but only 7 of them had the expected two recessive mutations. The remaining five patients seem to be heterozygous for a ClCN7 mutation, and significant variations were observed in the clinical manifestations of their disease, even within the same family....

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Identifiers

PMID: 14584882
DOI: 10.1359/jbmr.2003.18.10.1740

Genes

ADO
TCIRG1
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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