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Meckel syndrome 07

Meckel syndrome type 7 is an autosomal recessive disorder caused by mutations in the NPHP3 gene.

Systematic

Meckel syndrome
Meckel syndrome 02
Meckel syndrome 03
Meckel syndrome 05
Meckel syndrome 06
Meckel syndrome 08
Meckel syndrome 09
Meckel syndrome 10
Meckel syndrome 11
Meckel syndrome 13

References:

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 external link
15.

Orphanet article

Orphanet ID 3032 external link
Update: Aug. 14, 2020
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