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Article

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

American journal of medical genetics - 30 Oct 1998

Ballo R, Beighton P H, Ramesar R S

Abstract excerpt

The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED) to severe achondrogenesis/hypochondrogenesis. Several attempts have been made at providing phenotype-genotype correlations in this group of disorders. In this report we discuss a South African family in which four members have a phenotype resembling Stickler syndrome type 1. Ocular problems and...

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Identifiers

PMID: 9800905
DOI: 10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0

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Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.PMID 9800905Read ↗

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Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.Semantic proximity Read ↗

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The phenotypic spectrum of COL2A1 mutations.Semantic proximity Read ↗

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.Semantic proximity Read ↗

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Semantic proximity Read ↗

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Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Semantic proximity Read ↗

Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2: a case reportSemantic proximity Read ↗

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