Joubert syndrome 29 is an autosomal recessive disorder caused by mutations of the TMEM107 gene.
1. |
Christopher KJ et al. (2012) Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. |
2. |
Shaheen R et al. (2015) Identification of a novel MKS locus defined by TMEM107 mutation. |
3. |
Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. |
4. |
OMIM.ORG article Omim 617562 |