Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Meckel syndrome type 6 is an autosomal recessive disorder caused by mutations in the CC2D2A gene.
Meckel syndrome
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Meckel syndrome 02
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Meckel syndrome 03
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Meckel syndrome 05
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Meckel syndrome 06
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CC2D2A
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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. |
Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 
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| 2. |
Tallila J et al. (2008) Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
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| 3. |
OMIM.ORG article Omim 612284
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