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Article

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.

Italian journal of pediatrics - 20 Nov 2014

Bonapace Giuseppe, Moricca Maria Teresa, Talarico Valentina, Graziano Francesca, Pensabene Licia, Miniero Roberto

Abstract excerpt

BACKGROUND: Osteopetrosis is a rare genetic disorder characterized by increased bone density due to a defective osteoclast's bone resorption. Three clinical forms can be identified based on severity, age of onset and inheritance: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). Several genes have been involved in the pathogenesis of these different types of...

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Source

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Identifiers

PMID: 25410126
DOI: 10.1186/s13052-014-0090-6
PMCID: PMC4253627

Genes

CLCN7
ADO
TCIRG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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