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Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis

OBJECTIVE: Fragile X syndrome (FXS) and tuberous sclerosis (TSC) are genetic disorders that result in intellectual disability and an increased prevalence of autism spectrum disorders (ASD). While the clinical presentation of each disorder is distinct, the molecular causes are linked to a disruption...

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Publicado en:J Genet Disord Genet Rep
Autores principales: Yrigollen, Carolyn M, Pacini, Laura, Nobile, Veronica, Lozano, Reymundo, Hagerman, Randi J., Bagni, Claudia, Tassone, Flora
Formato: Artigo
Lenguaje:Inglês
Publicado: 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5319728/
https://ncbi.nlm.nih.gov/pubmed/28232951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4172/2327-5790.1000139
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