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Article

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.

Molecular genetics & genomic medicine - 1 Mar 2020

Zheng Wen-Bin, Li Lu-Jiao, Zhao Di-Chen, Wang Ou, Jiang Yan, Xia Wei-Bo, Xing Xiao-Ping, Li Mei

Abstract excerpt

BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare inherited chondrodysplasia characterized by abnormal epiphyses, short stature, and flattened vertebral bodies. We investigate the phenotypes and the disease-associated variants of SEDC in two unrelated Chinese families. METHODS: We identified disease-associated variants in two nonconsanguineous families with SEDC using targeted...

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Identifiers

PMID: 31972903
DOI: 10.1002/mgg3.1139
PMCID: PMC7057085

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Source receipt: pubmed, retrieved 7 Sept 2026.

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