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Novel Mutations in Chinese Patients with Multiple Osteochondromas Identified Using Whole Exome Sequencing.

Genetic testing and molecular biomarkers - 1 May 2021

Tong Yu, Luo Junchao, Zhang Yin, Hong Zheping, Cao Li, Chen Xinji, Chen Jihang, Bi Qing

Abstract excerpt

Background: Multiple osteochondromas (MO) are an autosomal-dominant disease characterized by the growth of multiple cartilage-capped prominences in the growth plate region of the metaphysis in long and flat bones. Materials and Methods: To detect genetic mutations related to MO, a three-generation Chinese family with MO was evaluated using whole exome sequencing for mutation screening. The candidate pathogenic...

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PMID: 34003695
DOI: 10.1089/gtmb.2020.0317

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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