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