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
Author:
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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