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Article

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

American journal of medical genetics - 22 Nov 2001

Unger S, Korkko J, Krakow D, Lachman R S, Rimoin D L, Cohn D H

Abstract excerpt

Pseudoachondroplasia (PSACH) and spondyloepiphyseal dysplasia congenita (SEDC) are autosomal dominant forms of short-limb short stature caused by mutations in genes that encode structural components of the cartilage extracellular matrix. PSACH results from mutations in the cartilage oligomeric matrix protein (COMP) gene, while SEDC is caused by mutations in the gene for type II procollagen (COL2A1). We report a...

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Source

Identifiers

PMID: 11746045
DOI: 10.1002/ajmg.10062

Genes

COMP

Variants

Provenance

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