Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Der Typ 2 des Meckel-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM216 hervorgerufen wird.
Meckel-Syndrom
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Meckel-Syndrom 02
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TMEM216
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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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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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| 1. |
Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 
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| 2. |
Verloes A et al. (1992) Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.
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| 3. |
Ahdab-Barmada M et al. (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.
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| 4. |
Paavola P et al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.
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| 5. |
Merscher S et al. (1997) A 5.5-Mb high-resolution integrated map of distal 11q13.
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| 6. |
Pattyn A et al. (1997) Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis.
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| 7. |
Roume J et al. (1997) Genetic heterogeneity of Meckel syndrome.
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| 8. |
Roume J et al. (1998) A gene for Meckel syndrome maps to chromosome 11q13.
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| 9. |
OMIM.ORG article Omim 603194
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