Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

We highlight the importance of exome sequencing in solving a clinical case of a child who died at 14 months after a series of respiratory crises. He was the half-brother of a girl diagnosed at 7 years with the early-onset seizure variant of Rett syndrome due to CDKL5 mutation. We performed a test fo...

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Bibliographic Details
Published in:Int J Mol Sci
Main Authors: Imperatore, Valentina, Mencarelli, Maria Antonietta, Fallerini, Chiara, Bianciardi, Laura, Ariani, Francesca, Furini, Simone, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa
Format: Artigo
Language:Inglês
Published: MDPI 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4813169/
https://ncbi.nlm.nih.gov/pubmed/26927095
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms17030306
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