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Article

Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2016

Bo Tao, Yan Fang, Guo Jun, Lin Xiaoyan, Zhang Haiqing, Guan Qingbo, Wang Hai, Fang Li, Gao Ling, Zhao Jiajun, Xu Chao

Abstract excerpt

Osteopetrosis (OMIM: 611497), literally "stone bone," is a group of inherited bone disorders characterized by increased skeletal mass due to defective osteoclast function. A patient who reported a history of frequent fractures, weakness and fatigue was admitted to our hospital in 2011. The patient presented with the typical features of osteopetrosis: fractures after minor trauma, early tooth loss, anemia,...

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Source

Identifiers

PMID: 27291868
DOI: 10.1002/jbmr.2885

Genes

PLEKHM1
EGFR

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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Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene.PMID 27291868Read ↗

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