Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations-Reference-Cited by-同舟云学术

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Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

Published:2004-11-03 Issue:3 Volume:13 Page:292-301
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Jakkula Eveliina,Mäkitie Outi,Czarny-Ratacjzak Malwina,Jackson Gail C,Damignani Rita,Susic Miki,Briggs Michael D,Cole William G,Ala-Kokko Leena

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201314.pdf

Reference28 articles.

1. Unger S, Hecht JT : Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments. Am J Med Genet 2001; 106: 244–250.

2. Briggs MD, Chapman KL : Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 2002; 19: 465–478.

3. Chapman KL, Briggs MD, Mortier GR : Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. Pediatr Pathol Mol Med 2003; 22: 53–75.

4. Mabuchi A, Manabe N, Haga N et al: Novel types of COMP mutations and genotype–phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet 2003; 112: 84–90.

5. Song HR, Lee KS, Li QW, Koo SK, Jung SC : Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. J Hum Genet 2003; 48: 222–225.

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