Intrafamilial variability in Fraser syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference15 articles.
1. Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
2. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
3. Fraser syndrome (cryptophthalmos-syndactyly syndrome): A review of eleven cases with postmortem findings
4. Fraser syndrome presenting as bilateral renal agenesis in three sibs
5. Fraser syndrome with renal agenesis in two consanguineous Turkish families
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1. Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome;Taiwanese Journal of Obstetrics and Gynecology;2022-05
2. Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2;Human Genome Variation;2020-10-02
3. Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families;Journal of Nephrology;2020-07-08
4. CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer;Genes;2020-04-03
5. Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene;American Journal of Medical Genetics Part A;2020-01-30
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