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.
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Lurie IW et al. (1984) Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome. |
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Thomas IT et al. (1986) Isolated and syndromic cryptophthalmos. |
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None (1986) Cryptophthalmos-syndactyly syndrome without cryptophthalmos. |
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Gattuso J et al. (1987) The clinical spectrum of the Fraser syndrome: report of three new cases and review. |
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Bialer MG et al. (1988) Syndromic cryptophthalmos. |
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Mortimer G et al. (1985) Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis. |
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Ide CH et al. (1969) Multiple congenital abnormalities associated with cryptophthalmia. |
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Azevêdo ES et al. (1973) Cryptophthalmos in two families from Bahia, Brazil. |
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None (1969) [Malformative syndrome with cryptophthalmos]. |
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Codère F et al. (1981) Cryptophthalmos syndrome with bilateral renal agenesis. |
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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. |
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Burn J et al. (1982) Fraser syndrome presenting as bilateral renal agenesis in three sibs. |
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Stevens CA et al. (1994) Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome. |
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Pankau R et al. (1994) Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids. |
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Andiran F et al. (1999) Fraser syndrome associated with anterior urethral atresia. |
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Elçioglu HN et al. (2000) Fraser syndrome: diagnosed in a 50-year-old museum specimen. |
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Slavotinek AM et al. (2002) Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. |
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van Haelst MM et al. (2007) Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. |
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Gupta SP et al. (1962) CRYPTOPHTHALMOS. |
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Greenberg F et al. (1986) Gonadal dysgenesis and gonadoblastoma in situ in a female with Fraser (cryptophthalmos) syndrome. |
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Takamiya K et al. (2004) A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. |
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Vogel MJ et al. (2012) Mutations in GRIP1 cause Fraser syndrome. |
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Darling S et al. (1994) A mouse model for Fraser syndrome? |
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McGregor L et al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. |
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Vrontou S et al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. |
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Slavotinek A et al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. |
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Cavalcanti DP et al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. |
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van Haelst MM et al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review. |
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Jadeja S et al. (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. |
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Shafeghati Y et al. (2008) Fraser syndrome due to homozygosity for a splice site mutation of FREM2. |
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Ramsing M et al. (1990) Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. |
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None (1990) Fraser syndrome and mouse 'bleb' mutants. |
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Schauer GM et al. (1990) Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks. |
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Francannet C et al. (1990) Fraser syndrome with renal agenesis in two consanguineous Turkish families. |
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Serville F et al. (1989) Fraser syndrome: prenatal ultrasonic detection. |
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Boyd PA et al. (1988) Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings. |
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Koenig R et al. (1986) Cryptophthalmos--syndactyly syndrome without cryptophthalmos. |
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Orphanet article Orphanet ID 2052 |
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OMIM.ORG article Omim 219000 |
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Wikipedia Artikel Wikipedia DE (Fraser-Syndrom) |