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Article

Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7.

American journal of medical genetics. Part A - 1 Apr 2012

Kantaputra Piranit Nik, Thawanaphong Saranya, Issarangporn Witchapong, Klangsinsirikul Phennapha, Ohazama Atsushi, Sharpe Paul, Supanchart Chayarop

Abstract excerpt

Infantile malignant autosomal recessive osteopetrosis (ARO; OMIM 259700) has been reported to be associated with mutations in TCIRG1, CLCN7, or OSTM1. ARO caused by homozygous (or compound heterozygous) mutations in CLCN7, as described here, is usually diagnosed at birth or early in infancy due to generalized osteosclerosis and severe hematologic deficits. The maximal life expectancy of patients with ARO in the...

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Source

Identifiers

PMID: 22419446
DOI: 10.1002/ajmg.a.35264

Genes

CLCN7
TCIRG1
OSTM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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