Clinical implications of somatic allele expansion in female FMR1 premutation carriers - Aishworiya, Ramkumar; Hwang, Ye Hyun; Santos, Ellery; Hayward, Bruce; Usdin, Karen; Durbin-Johnson, Blythe; Hagerman, Randi; Tassone, Flora (Scientific reports, 2023)
Keywords: 631/208/2489/144; 631/208/366/1311; Adolescent; Adult; Age; Aged; Aged, 80 and over; Alleles; Ataxia; Attention deficit hyperactivity disorder; Child; Child, Preschool; Diagnosis; Female; FMR1 gene; FMR1 protein; Fragile X Mental Retardation Protein - genetics; Fragile X syndrome; Fragile X Syndrome - genetics; Gene expression; Humanities and Social Sciences; Humans; Infant; Intellectual disabilities; Mental disorders; Middle Aged; multidisciplinary; Phenotypes; RNA, Messenger; Science; Science (multidisciplinary); Tremor; Trinucleotide Repeat Expansion; Young Adult