Fxs-like phenotype in two unrelated patients carrying a methylated premutation of the fmr1 gene

HIGHLIGHTS

  • who: Claudia Bagni and Marina Grasso from the King Abdulaziz University, Saudi Arabia have published the research: FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene, in the Journal: (JOURNAL)
  • what: The authors report two unrelated Caucasian families, each with one individual with FXS and one sibling presenting an FXS-like phenotype. gene and the consequent loss of its product, the fragile X mental retardation protein (FMRP). The authors report two atypical cases of genetic inter- and intrasomatic mosaicism that carry several patterns of FMR1 alleles.
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