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Defective gene chromosomal localization Congenital heart defects JAG1 PS FGFR2 10 of patients PS, VSD, endocardial fibroelastosis GATA4 ASD (secundum) 6p21 5p 6p21 ASD (secundum), atrioventricular conduction 1p31p21 defect EVC ASD, common atrium EVC2 Unknown LVH, MR, MVP TBX5 ASD, VSD PTPN11 PS, asymmetric septal hypertrophy, ASD, VSD Disorder Alagille syndrome Apert disease Atrial septal defect (secundum) Atrial ubiquity preseed options defect with atrioventricular conduction defect Ellisvan Creveld syndrome Galeophysic dysplasia Holt-Oram syndrome Noonans syndrome Descriptive name Arteriohepatic dysplasia Acrocephalosyndactyly type I Chondroectodermal dysplasia Heart-hand syndrome Inheritance AD AD AD AD AR AR AD AD genetic aspects of congenital heart disease 2601 AD, autosomal dominant; AR, autosomal recessive; ASD, atrial septal defect; LVH, left ventricular hypertrophy; MR, mitral regurgitation; MVP, mitral valve prolapse; PDA, patent ductus arteriosus; PS, pulmonary stenosis; VSD, ventricular septal defect.
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