PMID 26166481 2015 Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly 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 26026149 2015 Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
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.
rs555421894 in
KIAA0586;TIMM9 gene and
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
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.