| Entry |
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| Name |
Fraser syndrome |
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| Description |
Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations.
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| Category |
Congenital malformation
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| Brite |
Human diseases [BR:br08402]
Congenital malformations
Other congenital malformations
H00687 Fraser syndrome
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H00687 Fraser syndrome
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Slavotinek AM, Tifft CJ |
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| Title |
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. |
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| Journal |
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| Reference |
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| Authors |
Kabra M, Gulati S, Ghosh M, Menon PS |
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| Title |
Fraser-cryptophthalmos syndrome. |
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| Journal |
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| Reference |
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| Authors |
Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC |
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| Title |
Isolated and syndromic cryptophthalmos. |
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| Journal |
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| Reference |
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| Authors |
Petrou P, Makrygiannis AK, Chalepakis G |
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| Title |
The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype. |
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| Journal |
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| Reference |
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| Authors |
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM |
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| Title |
Mutations in GRIP1 cause Fraser syndrome. |
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| Journal |
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| LinkDB |
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