Condition: JOUBERT SYNDROME 2


rs11230683 in TMEM216 gene and JOUBERT SYNDROME 2 PMID 20512146 2010 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

PMID 28497568 2017 Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

PMID 23351400 2012 Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

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

PMID 20036350 2010 Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

PMID 22282472 2012 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.