Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly‐X‐Y Triple Helix
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference50 articles.
1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for Marshall syndrome [MIM 154780] and Stickler syndrome [MIM 108300, MIM 184840, and MIM 120280])
2. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
3. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
4. A type III procollagen gene mutation in a patient with late onset aneurysms
5. Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes
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