title: Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
authors.affiliation: Service de génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Sebastien
authors.initials: S
authors.lastname: Jacquemont
authors.forename: Stefanie
authors.initials: S
authors.lastname: Birnbaum
authors.forename: Silke
authors.initials: S
authors.lastname: Redler
authors.forename: Peter
authors.initials: P
authors.lastname: Steinbach
authors.forename: Valérie
authors.initials: V
authors.lastname: Biancalana
mesh_terms: D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis*; D012680:Sensitivity and Specificity; D013577:Syndrome; D014202:Tremor / Q000175:diagnosis / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human