Co-occurring diagnoses among FMR1 premutation allele carriers

• Published in: Clinical genetics Vol. 77; no. 4; pp. 374 - 381
• Main Authors: Hunter, JE, Rohr, JK, Sherman, SL
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2010; Wiley-Blackwell
• Subjects: Adolescent; Adult; Alleles; Biological and medical sciences; CGG repeat; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); Comorbidity; Demography; Female; FMR1; Fragile X Mental Retardation Protein - genetics; fragile X syndrome; Fundamental and applied biological sciences. Psychology; FXPOI; FXTAS; General aspects. Genetic counseling; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Heterozygote; Humans; Male; Medical diagnosis; Medical disorders; Medical genetics; Medical sciences; Middle Aged; Models, Genetic; Molecular and cellular biology; Mutation; Mutation - genetics; Ovarian Diseases - epidemiology; Ovarian Diseases - genetics; premutation; Womens health; Young Adult; Human; Chromosome fragility; CGG repeat; Repeated sequence; FMR1; Genetic disease; Allele; Genetic counseling; premutation; FXTAS; Genetics; Diagnosis; Carrier; Fragile X syndrome; FXPOI

Hunter JE, Rohr JK, Sherman SL. Co‐occurring diagnoses among FMR1 premutation allele carriers. Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X‐associated primary ovarian insufficien...