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Article

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.

International journal of biological sciences - 1 Jan 2020

Xu Yang, Li Li, Wang Chun, Yue Hua, Zhang Hao, Gu Jiemei, Hu Weiwei, Liu Lianyong, Zhang Zhenlin

Abstract excerpt

COL2A1-related disorders represent a heterogeneous group of skeletal dysplasias with a wide phenotypic spectrum. Our aim is to characterize the clinical and molecular phenotypes of Chinese patients with COL2A1-related dysplasia and to explore their phenotype-genotype relations. Clinical data were collected, physical examinations were conducted, and X-ray radiography and genetic analyses were performed in ten...

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Identifiers

PMID: 32071555
DOI: 10.7150/ijbs.38811
PMCID: PMC7019135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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