Condition: JOUBERT SYNDROME 23


rs1057516038 in KIAA0586 gene and JOUBERT SYNDROME 23 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.

PMID 26026149 2015 Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

PMID 26437029 2015 Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

PMID 26386247 2015 TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

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

PMID 26386044 2015 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

PMID 26429889 2015 A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

rs555421894 in KIAA0586;TIMM9 gene and JOUBERT SYNDROME 23 PMID 26386044 2015 Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

PMID 26096313 2015 KIAA0586 is Mutated in Joubert Syndrome.