Das Meckel-Gruber-Syndrom ist ein seltenes lethales Fehlbildungssyndrom welches viele Organe betrifft. Besonders typische Veränderungen sind die okzipitale Enzephalozele, polyzystische Nieren und Polydaktylie.
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None (1984) Johann Friedrich Meckel the Younger (1781-1833). |
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None (1984) Gross anatomical studies of a newborn infant with the Meckel syndrome. |
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None (1981) Phenotypic variation in Meckel syndrome. |
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Paavola P et al. (1997) Clinical and genetic heterogeneity in Meckel syndrome. |
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Kyttälä M et al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. |
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Auber B et al. (2007) A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. |
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Adams M et al. (2012) A meckelin-filamin A interaction mediates ciliogenesis. |
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Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. |
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Paavola P et al. (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. |
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Roume J et al. (1998) A gene for Meckel syndrome maps to chromosome 11q13. |
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Frank V et al. (2008) Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. |
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Simpson JL et al. (1991) Genetic heterogeneity in neural tube defects. |
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Blankenberg TA et al. (1987) Pathology of renal and hepatic anomalies in Meckel syndrome. |
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None (1986) Distal obstructive uropathy with polydactyly: a new syndrome? |
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54. |
Mecke S et al. (1971) Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. |
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Orphanet article Orphanet ID 564 |
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Wikipedia Artikel Wikipedia DE (Meckel-Syndrom) |