Condition: JOUBERT SYNDROME 5
rs137852832 in
CEP290 gene and
JOUBERT SYNDROME 5
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
PMID 17409309 2007 High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
rs62635288 in
CEP290;TMTC3 gene and
JOUBERT SYNDROME 5
PMID 16682970 2006 Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
PMID 26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
PMID 16682973 2006 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
rs758550675 in
TMTC3;CEP290 gene and
JOUBERT SYNDROME 5
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.