Meckel syndrome type 7 is an autosomal recessive disorder caused by mutations in the NPHP3 gene.
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 | |||
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1. |
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2. |
None (1984) The Meckel syndrome: clinicopathological findings in 67 patients. |
3. |
Walpole IR et al. (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? |
4. |
Herriot R et al. (1991) Dandy-Walker malformation in the Meckel syndrome. |
5. |
Al-Gazali LI et al. (1996) Meckel syndrome and Dandy Walker malformation. |
6. |
Logan CV et al. (2011) Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. |
7. |
Hunter AG et al. (1991) Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? |
8. |
Gloeb DJ et al. (1989) The Goldston syndrome: report of a case. |
9. |
Kudo M et al. (1985) Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases. |
10. |
Moerman P et al. (1993) Goldston syndrome reconsidered. |
11. |
Gulcan YH et al. (2001) Goldston syndrome: report of a case. |
12. |
GOLDSTON AS et al. (1963) NEONATAL POLYCYSTIC KIDNEY WITH BRAIN DEFECT. |
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. |
14. |
OMIM.ORG article Omim 267010 |
15. |
Orphanet article Orphanet ID 3032 |