Article
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.
American journal of medical genetics - 15 Sept 2002
Raas-Rothschild Annick, Shteyer Eyal, Lerer Israela, Nir Amiram, Granot Esther, Rein Azaria J J T
Abstract excerpt
Congenital cardiac defects such as peripheral pulmonary stenosis are well described in Alagille syndrome (AGS), which is transmitted in an autosomal dominant inheritance. Haploinsufficiency of the Jagged1 (JAG1) gene has been shown to cause AGS. Abdominal coarctation is an uncommon vascular congenital anomaly which has been described only three times in AGS. Recently, expression of the Jagged1 gene has been found...
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