Der Typ 3 des Meckel-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM67 hervorgerufen wird.
Meckel-Syndrom | ||||
Meckel-Syndrom 02 | ||||
Meckel-Syndrom 03 | ||||
TMEM67 | ||||
Meckel-Syndrom 05 | ||||
Meckel-Syndrom 06 | ||||
Meckel-Syndrom 08 | ||||
Meckel-Syndrom 09 | ||||
Meckel-Syndrom 10 | ||||
Meckel-Syndrom 11 | ||||
Meckel-Syndrom 13 | ||||
1. |
Consugar MB et al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. |
2. |
Adams M et al. (2012) A meckelin-filamin A interaction mediates ciliogenesis. |
3. |
Smith UM et al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. |
4. |
Shaheen R et al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. |
5. |
Nauta J et al. (2000) New rat model that phenotypically resembles autosomal recessive polycystic kidney disease. |
6. |
Morgan NV et al. (2002) A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. |
7. |
OMIM.ORG article Omim 607361 |