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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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Détails bibliographiques
Publié dans:J Genet Disord Genet Rep
Auteurs principaux: Yrigollen, Carolyn M, Pacini, Laura, Nobile, Veronica, Lozano, Reymundo, Hagerman, Randi J., Bagni, Claudia, Tassone, Flora
Format: Artigo
Langue:Inglês
Publié: 2016
Sujets:
Accès en ligne: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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