Abstract
Commentary: Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis.
Highlights
Reviewed by: Claes Wahlestedt, University of Miami School of Medicine, USA Corrado Romano, IRCCS Associazione Oasi Maria
In the majority of cases, Fragile X syndrome (FXS) is caused by a trinucleotide repeat expansion (CGG) in the FMR1 gene, which causes loss of expression of fragile X mental retardation protein (FMRP) (Santoro et al, 2011)
A FXS genetic test is not included in the newborn screening (NBS) panel in the United States due to ethical debates regarding screening for genetic disorders where no therapeutic intervention exists and contemporaneous identification of premutation carriers
Summary
Reviewed by: Claes Wahlestedt, University of Miami School of Medicine, USA Corrado Romano, IRCCS Associazione Oasi Maria. In the majority of cases, FXS is caused by a trinucleotide repeat expansion (CGG) in the FMR1 gene, which causes loss of expression of fragile X mental retardation protein (FMRP) (Santoro et al, 2011).
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