Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients-Reference-Cited by-同舟云学术

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

Published:2003-08-21 Issue:3 Volume:125A Page:278-284
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mäkitie Outi,Mortier Geert R.,Czarny-Ratajczak Malwina,Wright Michael J.,Suri Mohnish,Rogala Piotr,Freund Margarida,Jackson Gail C.,Jakkula Eveliina,Ala-Kokko Leena,Briggs Michael D.,Cole William G.

Funder

The Foundation for Paediatric Research, Helsinki, Finland

Novo Nordisk A/S (ESPE Research Fellowship) (to O.M.)

The Flanders Fund for Scientific Research (to G.R.M.)

The European Commission (to M.D.B., M.J.W., L.A-K., and G.R.M.)

The Polish State Committee for Scientific Research (to M.C-R.)

The Academy of Finland

The Arthritis Foundation, Louisiana Gene Therapy Research Consortium, New Orleans, L.A.

HCA-The Health Care Company, Nashville, TN (to L.A-K.)

The Arthritis Research Campaign (to M.D.B.)

The Canadian Institutes of Health Research (to W.G.C.)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.20486/fullpdf

Reference24 articles.

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2. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations;Briggs;Hum Mutat,2002

3. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene;Briggs;Nat Genet,1995

4. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with Multiple Epiphyseal Dysplasia;Chapman;Nat Genet,2001

5. A mutation in COL9A1 causes Multiple Epiphyseal Dysplasia. Further evidence for locus heterogeneity;Czarny-Ratajczak;Am J Hum Genet,2001

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