A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome-Reference-Cited by-同舟云学术

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome

Published:2007-09-05 Issue:5 Volume:72 Page:454-459
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Auber B,Burfeind P,Herold S,Schoner K,Simson G,Rauskolb R,Rehder H

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00880.x/fullpdf

Reference13 articles.

1. Meckel syndrome;Salonen;J Med Genet,1998

2. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome;Kyttala;Nat Genet,2006

3. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat;Smith;Nat Genet,2006

4. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis;Alexiev;Arch Pathol Lab Med,2006

5. Meckel syndrome: what are the minimum diagnostic criteria?;Wright;J Med Genet,1994

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