Condition: Meckel syndrome type 3
rs137853106 in
TMEM67 gene and
Meckel syndrome type 3
PMID 17185389 2007 The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
PMID 16415887 2006 The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
PMID 21368913 2011 Clinical utility gene card for: Meckel syndrome.
PMID 20232449 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.