X-linked mental retardation FRAXE

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[1][2]

Pathology

  • associated with defects in AFF2
    • correlated with FRAXE CCG(N) expansion.
    • normal individuals have 6-35 copies of the repeat cytogenetically positive, developmentally delayed males have > 200 copies & methylation of the associated CPG island

More general terms

References

  1. ↑ OMIM https://mirror.omim.org/entry/309548
  2. ↑ GeneReviews http://www.genetests.org/query?gene=AFF2

Database

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