NovelCOL9A3 mutation in a family with multiple epiphyseal dysplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference14 articles.
1. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy
2. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations
3. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
4. A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity
5. Dysplasia epiphysiais multiplex
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1. Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment;European Journal of Human Genetics;2021-02-25
2. Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment;Genes;2020-08-03
3. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation;American Journal of Medical Genetics Part A;2018-11-18
4. Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report;BMC Musculoskeletal Disorders;2014-11-08
5. Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in theCOL9A1Gene;Investigative Opthalmology & Visual Science;2011-06-30
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