Article
Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.
American journal of medical genetics. Part A - 1 Jul 2013
Keitges Elisabeth A, Pasion Romela, Burnside Rachel D, Mason Carla, Gonzalez-Ruiz Antonio, Dunn Teresa, Masiello Meredith, Gebbia Joseph A, Fernandez Carlos O, Risheg Hiba
Abstract excerpt
Microdeletions of 8p23.1 are mediated by low copy repeats and can cause congenital diaphragmatic hernia (CDH) and cardiac defects. Within this region, point mutations of the GATA4 gene have been shown to cause cardiac defects. However, the cause of CDH in these deletions has been difficult to determine due to the paucity of mutations that result in CDH, the lack of smaller deletions to refine the region and the...
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