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
BARDET-BIEDL SYNDROME 13
PMID 16415886 2006 MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.