Genetic aspects of birth defects: new understandings of old problems

AUTOR(ES)

Prescott, Katrina R

FONTE

BMJ Group

RESUMO

Over the past two decades, combined advances in genetics, developmental biology and biochemistry have transformed the study of human birth defects. This review describes the importance of genome architecture, parent of origin effects (imprinting), molecular pathophysiology, developmental pathways, mosaicism and cancer predisposition syndromes in the understanding of birth defects. This knowledge can be applied to improve diagnostic accuracy, prognostic information, counselling and sometimes even treatment of these conditions.

Documentos Relacionados

• Birth Defects: Clinical and Ethical Considerations
• Birth Defects: Original Article Series, 8
• Classroom teaching in genetics and birth defects: the Nottingham experience.
• Tuberculosis: Old problems and new approaches
• A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects: Report of the Birth Defects Research Group