Fragile X syndromePHACTR1-related DEE
…nal validation methods, resulting in the molecular diagnoses of Fragile X syndrome and PHACTR1-related DEE, respectively.Conclusion OGM contribute…
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fragile X syndrome
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Articles mentioning fragile X syndrome
4 articles · page 1 of 1cystic fibrosisfamilial dysautonomiaCanavan diseasefragile X syndromeTay-Sachs diseasespinal muscular atrophyhaemoglobinopathiesfounder mutationsCanadian College of Medical GeneticistsCCMG
…ons, based on Canadian experience with ethnicity-based testing: cystic fibrosis, fragile X syndrome, spinal muscular atrophy, haemoglobinopathi…
Catatoniafragile X syndromePhelan-McDermid syndromeMarfan’s syndromeCornelia de Lange syndromeWilson’s diseaseDown’s syndrome22q11.2 deletion syndrome
… both 22q13 and 15q15, none have been replicated.Interpretation Catatonia can manifest in a wide range of genetic syndromes. Psychosocial…
fragile X syndromeFXSClinical Practice Research Datalink
…althcare services. We calculated the diagnosed UK prevalence of fragile X syndrome (FXS) and estimated the undiagnosed FXS population.Methods A re…