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Article

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.

Journal of clinical laboratory analysis - 1 Apr 2021

Zhou Tangjun, Yang Xiao, Chen Zhiqian, Zhou Yifan, Cao Xiankun, Zhao Changqing, Zhao Jie

Abstract excerpt

BACKGROUND: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other features of SEDC include myopia and/or retinal degeneration with retinal detachment and cleft palate. A mutation in the COL2A1 gene located in 12q13.11 is...

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Identifiers

PMID: 33590889
DOI: 10.1002/jcla.23728
PMCID: PMC8059726

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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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