By Mary Kearns-Jonker
Well-liked researchers and clinicians describe intimately the entire most modern laboratory options at the moment used to outline the molecular genetic foundation for congenital malformations of the guts, cardiomyopathies, cardiac tumors, and arrythmias in human sufferers. particularly, the equipment can be utilized to spot in scientific samples these genetic mutations chargeable for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors additionally speak about the restrictions of making a choice on sufferers with congenital middle sickness utilizing those options in the course of either pre- and postnatal sessions.
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Additional info for Congenital Heart Disease: Molecular Diagnostics (Methods in Molecular Medicine)
Revealed low levels of mRNA in the developing bone, heart, kidney, and lung. Specifically, EVC expression was observed in the atrial and ventricular myocardium, as well as the atrial and interventricular septa (53). The availability of genetic testing, particularly in the setting of ultrasound diagnosis (56), is an important advance in the management of at-risk pregnancies and newborns with EvC. By identifying new mutations in the EVC and EVC2 genes, more information can be gained to understand how these two genes participate in cardiac and skeletal development.
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Ide, S. , et al. (1996) The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Genomics 35, 1–5. 53. Ruiz-Perez, V. , Ide, S. , Strom, T. , et al. (2000) Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat. Genet. 24, 283–286. 54. , Hirshman, M. , et al. (2002) A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol. Genet. Metab. 77, 291–295. 55. Ruiz-Perez, V. , Tompson, S. , Blair, H. , et al. (2003) Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.