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Article

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

The Indian journal of medical research - 1 Apr 2010

Phadke Shubha R, Fischer Bjoern, Gupta Neerja, Ranganath Prajnya, Kabra Madhulika, Kornak Uwe

Abstract excerpt

BACKGROUND & OBJECTIVES: Although clinical reports have described infantile malignant autosomal recessive osteopetrosis (ARO) in Indian patients, no published data are available about the genetic causes of ARO in this population. We investigated the main genetic causes of ARO in eight Indian patients with early postnatal onset and the typical severe clinical course including visual impairment and anaemia....

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20424301

Genes

TCIRG1
CLCN7

Variants

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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