Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia-Reference-Cited by-同舟云学术

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Published:2006-11-29 Issue:2 Volume:15 Page:150-154
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Zankl Andreas,Jackson Gail C,Crettol Laureane Mittaz,Taylor Jacky,Elles Rob,Mortier Geert R,Spranger Jurgen,Zabel Bernhard,Unger Sheila,Merrer Martine Le,Cormier-Daire Valerie,Hall Christine M,Wright Michael J,Bonafe Luisa,Superti-Furga Andrea,Briggs Michael D

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201744.pdf

Reference10 articles.

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

2. Rossi A, Superti-Furga A : Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat 2001; 17: 159–171.

3. Unger SL, King LM, Sobetzko D, Superti-Furga A, Cohn DH : A multiplcity of loci for multiple epiphyseal dysplasia. Am J Hum Genet 2000; 67: 371.

4. Jakkula E, Makitie O, Czarny-Ratacjzak M et al: Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet 2005; 13: 292–301.

5. Kennedy J, Jackson G, Ramsden S et al: COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. Eur J Hum Genet 2005; 13: 547–555.

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