Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.

@article{Pezzetti2004MaternalMV,
  title={Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.},
  author={Furio Pezzetti and Marcella Martinelli and Luca Scapoli and Francesco Carinci and Annalisa Palmieri and Jlenia Marchesini and Paolo Carinci and Elisabetta Caramelli and Rosario Rullo and Fernando Gombos and Mauro Tognon},
  journal={Human mutation},
  year={2004},
  volume={24 1},
  pages={
          104-5
        }
}
The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p.Glu429Ala… CONTINUE READING
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