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Article

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.

BMC medical genetics - 10 Nov 2017

Li Yuchan, Wang Jian, Wang Zhigang, Tang Jingyan, Yu Tingting

Abstract excerpt

BACKGROUND: Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical phenotypes in Chinese patients. METHODS: Forty-six patients from different families were prospectively enrolled. The...

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Identifiers

PMID: 29126381
DOI: 10.1186/s12881-017-0488-2
PMCID: PMC5681804

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EXT1
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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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