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Human neural tube defects: Genetic causes and prevention

14 Jun 2011

Abstract excerpt

Neural tube defects (NTDs) are severe congenital malformations affecting 1-2 in 1,000 live births, whose etiology is multifactorial, involving environmental and genetic factors. NTDs arise as consequence of the failure of fusion of the neural tube early during embryogenesis. NTDs' pathogenesis has been linked to genes involved in folate metabolism, consistent with an epidemiologic evidence that 70% of NTDs can be...

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PMID: 21674647
DOI: 10.1002/biof.170

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