A number of studies have demonstrated that the common polymorphism 677CโT in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent
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Lack of association betweenZIC2 andZIC3 genes and the risk of neural tube defects (NTDs) in hispanic populations
โ Scribed by Zhu, Huiping ;Junker, Wade M. ;Finnell, Richard H. ;Brown, Stephen ;Shaw, Gary M. ;Lammer, Edward J. ;Canfield, Mark ;Hendricks, Kate
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 41 KB
- Volume
- 116A
- Category
- Article
- ISSN
- 0148-7299
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From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc