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Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.

Clinical genetics - 1 May 2015

Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G

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PMID: 25060605
DOI: 10.1111/cge.12466

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Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.PMID 25060605Read ↗

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.Semantic proximity Read ↗

Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.Semantic proximity Read ↗

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.Semantic proximity Read ↗

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.Semantic proximity Read ↗

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.Semantic proximity Read ↗

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaSemantic proximity Read ↗

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

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.Semantic proximity Read ↗

The phenotypic spectrum of COL2A1 mutations.Semantic proximity Read ↗

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