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Article

Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.

Calcified tissue international - 1 Jan 2004

Letizia C, Taranta A, Migliaccio S, Caliumi C, Diacinti D, Delfini E, D'Erasmo E, Iacobini M, Roggini M, Albagha O M E, Ralston S H, Teti A

Abstract excerpt

A 16-year-old male patient with type II autosomal dominant benign osteopetrosis (ADO) was genotyped and found to harbor a novel mutation in exon 25 of the gene encoding for the osteoclast-specific chloride channel, CLCN7, inherited from the father, who was asymptomatic. The patient had normal bio...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14564431
DOI: 10.1007/s00223-002-1087-5

Genes

CLCN7
ADO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14564431-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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