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Article

A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family.

Clinical dysmorphology - 1 Jan 2012

Al-Aama Jumana Y, Dabbagh Amal A, Edrees Alaa Y

Abstract excerpt

Neurologic manifestations in osteopetrosis are usually secondary to sclerosis of the skull bones. However, a rare neuropathic subtype of osteopetrosis exists that resembles neurodegenerative storage disorders. Unlike other forms of osteopetrosis, this latter form does not respond to hematopoietic stem cell transplantation. Preliminary studies suggest that this neuropathic form is more likely to be caused by...

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Source

Identifiers

PMID: 21946807
DOI: 10.1097/MCD.0b013e32834af585

Genes

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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A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family.PMID 21946807Read ↗

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