Meckel-Syndrom 06
Der Typ 6 des Meckel-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen CC2D2A hervorgerufen wird.
Gliederung
Meckel-Syndrom
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Meckel-Syndrom 02
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Meckel-Syndrom 03
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Meckel-Syndrom 05
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Meckel-Syndrom 06
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CC2D2A
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Meckel-Syndrom 08
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Meckel-Syndrom 09
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Meckel-Syndrom 10
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Meckel-Syndrom 11
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Meckel-Syndrom 13
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Referenzen:
| 1. |
Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. [^] |
| 2. |
Tallila J et al. (2008) Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. [^] |
| 3. |
OMIM.ORG article Omim 612284 [^] |
Update: 29. April 2019
