Kromosomforandringer ved medfødt hjertemisdannelse
Engelsk titel: Chromosomal changes in congenital heart disease
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Författare:
Larsen, Lars Allan
Email: larsal@sund.ku.dk
Språk: Dan
Antal referenser: 20
Dokumenttyp:
Översikt
UI-nummer: 11011561
Sammanfattning
Congenital heart disease (CHD) affects 1% of the population. The aetiology of CHD is complex and largely unknown, comprising both environmental and genetic components. Recent progress in molecular cytogenetics has led to the identification of rare genomic copy number variants (CNVs) in a significant proportion of CHD patients. These novel results imply new diagnostic possibilities and may aid in the identification of novel disease genes.