Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Meckel-Syndrom 07

Der Typ 7 des Meckel-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen NPHP3 hervorgerufen wird.

Gliederung

Meckel-Syndrom
Meckel-Syndrom 02
Meckel-Syndrom 03
Meckel-Syndrom 05
Meckel-Syndrom 06
Meckel-Syndrom 08
Meckel-Syndrom 09
Meckel-Syndrom 10
Meckel-Syndrom 11
Meckel-Syndrom 13

Referenzen:

1.

Karmous-Benailly H et al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

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2.

None (1984) The Meckel syndrome: clinicopathological findings in 67 patients.

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3.

Walpole IR et al. (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?

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4.

Herriot R et al. (1991) Dandy-Walker malformation in the Meckel syndrome.

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5.

Al-Gazali LI et al. (1996) Meckel syndrome and Dandy Walker malformation.

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6.

Logan CV et al. (2011) Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

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7.

Hunter AG et al. (1991) Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?

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8.

Gloeb DJ et al. (1989) The Goldston syndrome: report of a case.

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9.

Kudo M et al. (1985) Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases.

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10.

Moerman P et al. (1993) Goldston syndrome reconsidered.

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11.

Gulcan YH et al. (2001) Goldston syndrome: report of a case.

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12.

GOLDSTON AS et al. (1963) NEONATAL POLYCYSTIC KIDNEY WITH BRAIN DEFECT.

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13.

Bergmann C et al. (2008) Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

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14.

OMIM.ORG article

Omim 267010 [^]
15.

Orphanet article

Orphanet ID 3032 [^]
Update: 9. Mai 2019