A family with two female siblings with compound heterozygous FMR1 premutation alleles
| Autor: | Basuta, K, Lozano, R, Schneider, A, Yrigollen, CM, Hessl, D, Hagerman, RJ, Tassone, F |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Heterozygote Intellectual and Developmental Disabilities (IDD) Clinical Sciences fragile X Fragile X Mental Retardation Protein FMR1 gene Rare Diseases Pregnancy Intellectual Disability Behavioral and Social Science compound heterozygous premutation Genetics Humans Genetic Testing Alleles Pediatric Genetics & Heredity Siblings Brain Disorders premutation Mental Health Fragile X Syndrome Mutation Female Trinucleotide Repeat Expansion |
| Zdroj: | Clinical genetics, vol 85, iss 5 |
| Popis: | Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. Carrier females typically have a premutation allele and a normal allele ( |
| Databáze: | OpenAIRE |
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