Der Typ 13 des Meckel-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM107 hervorgerufen wird.
Meckel-Syndrom | ||||
Meckel-Syndrom 02 | ||||
Meckel-Syndrom 03 | ||||
Meckel-Syndrom 05 | ||||
Meckel-Syndrom 06 | ||||
Meckel-Syndrom 08 | ||||
Meckel-Syndrom 09 | ||||
Meckel-Syndrom 10 | ||||
Meckel-Syndrom 11 | ||||
Meckel-Syndrom 13 | ||||
TMEM107 | ||||
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 |