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Article

Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery - 1 Jul 2012

Xue Yang, Wang Weiguang, Mao Tianqiu, Duan Xiaohong

Abstract excerpt

Osteopetrosis is a group of genetic bone disorders. There are three types of osteopetrosis: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO). The prevalence of ADO II is about 1:100,000, while no...

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Source

Identifiers

PMID: 21962762
DOI: 10.1016/j.jcms.2011.07.014

Genes

ADO
CLCN7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21962762-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia.PMID 21962762Read ↗

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A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.Semantic proximity Read ↗

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