Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features | Main features:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular
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Therapies under research |
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Further information |
References
- Gupta SP, Saxena RC. CRYPTOPHTHALMOS. Br J Ophthalmol. 1962;46(10):629‐632
- Petrou P, Pavlakis E, Dalezios Y, Galanopoulos VK, Chalepakis G. Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome. J Biol Chem. 2005;280(11):10350‐10356
- van Haelst MM, Maiburg M, Baujat G, et al. Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A. 2008;146A(17):2252‐2257
- Vrontou S, Petrou P, Meyer BI, et al. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat Genet. 2003;34(2):209‐214
- Saleh GM, Hussain B, Verity DH, Collin JR. A surgical strategy for the correction of Fraser syndrome cryptophthalmos. Ophthalmology. 2009;116(9):1707‐1712
- Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002;39(9):623‐633. doi:10.1136/jmg.39.9.623