Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference11 articles.
1. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria;van Haelst;Am J Med Genet,2007
2. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes;Slavotinek;J Med Genet,2002
3. Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature;Berg;Ultrasound Obstet Gynecol,2001
4. Fraser syndrome: recurrence in a family;Singh;Indian Pediatr,2007
5. Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy;De Jong;Pediatr Dev Pathol,2008
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Prenatal ultrasound diagnosis of complete cryptophthalmos, congenital aphakia, and corneal vascularization in a fetus: A case report and literature review;European Journal of Obstetrics & Gynecology and Reproductive Biology;2024-10
2. Bovine FRAS1: mRNA Expression Profile, Genetic Variations, and Significant Correlations with Ovarian Morphological Traits, Mature Follicle, and Corpus Luteum;Animals;2024-02-12
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