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Article

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

American journal of medical genetics. Part A - 1 Jul 2015

Kawano Osamu, Nakamura Akie, Morikawa Shuntaro, Uetake Kimiaki, Ishizu Katsura, Tajima Toshihiro

Abstract excerpt

Spondyloepiphyseal dysplasia congenita (SEDC) is a group of rare inherited chondrodysplasias characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. SEDC is usually caused by substitution of glycine residue with another amino acid in the triple helical domains of alpha 1 chains, which consist of type II collagen (COL2A1). Herein, we describe a unique case of SEDC with mild coxa vara...

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PMID: 25900302
DOI: 10.1002/ajmg.a.37073

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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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