Joubert syndrome 26 is an autosomal recessive disorder caused by mutations of the KIAA0556 gene.
1. |
Sanders AA et al. (2015) KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. |
2. |
Roosing S et al. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. |
3. |
OMIM.ORG article Omim 616784 |