Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues
Author:
Affiliation:
1. Biosciences Institute Newcastle University, International Centre for Life Newcastle Upon Tyne UK
Publisher
Wiley
Subject
Developmental Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/dvdy.221
Reference108 articles.
1. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
2. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
3. A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity
4. A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
5. COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia
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