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Article

A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society - 1 May 2014

Xu Leilei, Qiu Xusheng, Zhu Zezhang, Yi Long, Qiu Yong

Abstract excerpt

PURPOSE: To investigate the genotype of COL2A1 in a three-generation spondyloepiphyseal dysplasia congenita (SEDC) family. METHODS: Five affected individuals from a Chinese SEDC family were enrolled in the study. All patients underwent thorough physical and radiographic examinations. DNA samples of the affected patients and the healthy controls were collected with the informed consent obtained from each...

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PMID: 24736929
DOI: 10.1007/s00586-014-3292-0

Genes

AGT

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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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A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family.PMID 24736929Read ↗

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