Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Meckel syndrome type 3 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.
Meckel syndrome
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Meckel syndrome 02
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Meckel syndrome 03
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TMEM67
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Meckel syndrome 05
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Meckel syndrome 06
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Meckel syndrome 08
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Meckel syndrome 09
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Meckel syndrome 10
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Meckel syndrome 11
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Meckel syndrome 13
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| 1. |
Consugar MB et al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 
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| 2. |
Adams M et al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.
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| 3. |
Smith UM et al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
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| 4. |
Shaheen R et al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
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| 5. |
Nauta J et al. (2000) New rat model that phenotypically resembles autosomal recessive polycystic kidney disease.
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| 6. |
Morgan NV et al. (2002) A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
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| 7. |
OMIM.ORG article Omim 607361
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