Joubert syndrome 26
Joubert syndrome 26 is an autosomal recessive disorder caused by mutations of the KIAA0556 gene.
Sanders AA et al. (2015) KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.[^]
Roosing S et al. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.[^]
OMIM.ORG articleOmim 616784 [^]