Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical)
Reference20 articles.
1. Isolated and syndromic cryptophthalmos;Thomas;Am J Med Genet,1986
2. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria;van Haelst;Am J Med Genet A,2007
3. Our genetical ‘load’. A review of some aspects of genetical variation;Fraser;Ann Hum Genet,1962
4. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein;McGregor;Nat Genet,2003
5. Fraser syndrome due to homozygosity for a splice site mutation of FREM2;Shafeghati;Am J Med Genet A,2008
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1. Fraser Syndrome (FRASRS);Genetic Syndromes;2024
2. A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1;Taiwanese Journal of Obstetrics and Gynecology;2022-01
3. Orpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristics;Nephrology (Saint-Petersburg);2021-04-23
4. Fraser syndrome: review of the literature illustrated by a historical adult case;International Journal of Oral and Maxillofacial Surgery;2020-10
5. Prenatal sonographic features of Fraser syndrome with multiple craniofacial abnormalities: a case report;Women's Health;2018-02-15
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