Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference36 articles.
1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
2. Stickler Syndrome
3. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
4. Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen
5. Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness
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2. Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations;Genes;2023-03-31
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4. Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene;Ophthalmic Genetics;2022-04-26
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