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Do the data really support ordering fragile X testing as a first-tier test without clinical features?

PURPOSE: Current guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual disabilities/learning delay (ID/LD) and autism spectrum disorders (ASDs). METHODS: Males in our clinic with ID/LD or ASD (310) were analyzed...

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Detalles Bibliográficos
Autores principales: Weinstein, Veronique, Tanpaiboon, Pranoot, Chapman, Kimberly A, Ah Mew, Nicholas, Hofherr, Sean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702277/
https://www.ncbi.nlm.nih.gov/pubmed/28541279
http://dx.doi.org/10.1038/gim.2017.64