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- W2024482751 abstract "The causes of congenital heart malformations are complex and include a major contribution by genetic factors. These can be considered under the headings of chromosomal, single gene and multifactorial. Almost any degree of autosomal imbalance, whether a full trisomy or a tiny microdeletion, can cause a cardiac malformation. Recent research has identified several developmental genes which play an important role in cardiac formation: these are discussed with regard to laterality, septation and vascular morphogenesis. Hypothetical ‘polygenes’, which may contribute to non-syndromal ‘multifactorial’ cardiac malformations have yet to be identified. Well-known cardiac malformation syndrome associations are described and simple guidelines are presented to help in the assessment and investigation of an affected neonate who has additional multiple dysmorphic features." @default.
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- W2024482751 date "2001-02-01" @default.
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- W2024482751 title "Congenital heart malformations: aetiology and associations" @default.
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- W2024482751 doi "https://doi.org/10.1053/siny.2000.0032" @default.
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