Fraser-Syndrom
Das Fraser-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen in den Genen FRAS1, GRIP1 und FREM2 ausgelöst wird. Sie ist durch Syndaktylie und Kryptophthalmos gekennzeichnet.
Gliederung
Referenzen:
| 1. |
Takamiya K et. al. (2004) A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. [^] |
| 2. |
Kiyozumi D et. al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. [^] |
| 3. |
Vogel MJ et. al. (2012) Mutations in GRIP1 cause Fraser syndrome. [^] |
| 4. |
Darling S et. al. (1994) A mouse model for Fraser syndrome? [^] |
| 5. |
McGregor L et. al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. [^] |
| 6. |
Vrontou S et. al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. [^] |
| 7. |
Slavotinek A et. al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. [^] |
| 8. |
Cavalcanti DP et. al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. [^] |
| 9. |
van Haelst MM et. al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review. [^] |
| 10. |
Jadeja S et. al. (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. [^] |
| 11. |
Shafeghati Y et. al. (2008) Fraser syndrome due to homozygosity for a splice site mutation of FREM2. [^] |
| 12. |
Ramsing M et. al. (1990) Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. [^] |
| 13. |
None (1990) Fraser syndrome and mouse 'bleb' mutants. [^] |
| 14. |
Schauer GM et. al. (1990) Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks. [^] |
| 15. |
Francannet C et. al. (1990) Fraser syndrome with renal agenesis in two consanguineous Turkish families. [^] |
| 16. |
Serville F et. al. (1989) Fraser syndrome: prenatal ultrasonic detection. [^] |
| 17. |
Boyd PA et. al. (1988) Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. [^] |
| 18. |
Greenberg F et. al. (1986) Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome. [^] |
| 19. |
Koenig R et. al. (1986) Cryptophthalmos--syndactyly syndrome without cryptophthalmos. [^] |
| 20. |
Thomas IT et. al. (1986) Isolated and syndromic cryptophthalmos. [^] |
| 21. |
None (1986) Cryptophthalmos-syndactyly syndrome without cryptophthalmos. [^] |
| 22. |
Gattuso J et. al. (1987) The clinical spectrum of the Fraser syndrome: report of three new cases and review. [^] |
| 23. |
Bialer MG et. al. (1988) Syndromic cryptophthalmos. [^] |
| 24. |
Mortimer G et. al. (1985) Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis. [^] |
| 25. |
Ide CH et. al. (1969) Multiple congenital abnormalities associated with cryptophthalmia. [^] |
| 26. |
Azevêdo ES et. al. (1973) Cryptophthalmos in two families from Bahia, Brazil. [^] |
| 27. |
None (1969) [Malformative syndrome with cryptophthalmos]. [^] |
| 28. |
Codère F et. al. (1981) Cryptophthalmos syndrome with bilateral renal agenesis. [^] |
| 29. |
Lurie IW et. al. (1984) Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome. [^] |
| 30. |
Burn J et. al. (1982) Fraser syndrome presenting as bilateral renal agenesis in three sibs. [^] |
| 31. |
Stevens CA et. al. (1994) Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome. [^] |
| 32. |
Pankau R et. al. (1994) Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids. [^] |
| 33. |
Andiran F et. al. (1999) Fraser syndrome associated with anterior urethral atresia. [^] |
| 34. |
Elçioglu HN et. al. (2000) Fraser syndrome: diagnosed in a 50-year-old museum specimen. [^] |
| 35. |
Slavotinek AM et. al. (2002) Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. [^] |
| 36. |
van Haelst MM et. al. (2007) Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. [^] |
| 37. |
Gupta SP et. al. (1962) CRYPTOPHTHALMOS. [^] |
