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.[^]
OMIM.ORG articleOmim 617562 [^]