Condition: Meckel syndrome type 1


rs386834046 in LPO;LOC105371841;MKS1 gene and Meckel syndrome type 1 PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

rs386834052 in LPO;MKS1;LOC105371841 gene and Meckel syndrome type 1 PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

rs1555599412 in MKS1 gene and Meckel syndrome type 1 PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 17437276 2007 Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

PMID 17397051 2007 Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

PMID 27570071 2016 Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

rs386834051 in MKS1;LPO;LOC105371841 gene and Meckel syndrome type 1 PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

PMID 26490104 2016 MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?