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Trovó-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet 2006: 70: 1–13. © Blackwell Munksgaard, 2006 Neurofibromin is a cytoplasmic protein that is predominantly expressed in neurons, Schwann cells, oligodendrocytes, astrocytes and leukocytes. It is encoded by the gene NF1,...
Fragile X syndrome (FRX) is the most common inherited cause of mental retardation affecting approximately 1/4000 males and half as many females. Mosaicism has been reported in 12–41% of male cases. We present a 47-year-old male with the typical FRX phenotype referred for an evaluation of mental...
The CDKL5 gene has been implicated in infantile spasms and more recently in a Rett syndrome-like phenotype. We report a case of a young girl presenting generalized convulsions at 10 days of life. Subsequent mutation analysis by denaturing high-performance liquid chromatography of MECP2 and CDKL5...
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