Meckel syndrome type 13 is an autosomal recessive disorder caused by mutations in the TMEM107 gene.
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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![]() |