The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT...

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Autors principals: Fehr, Stephanie, Wilson, Meredith, Downs, Jenny, Williams, Simon, Murgia, Alessandra, Sartori, Stefano, Vecchi, Marilena, Ho, Gladys, Polli, Roberta, Psoni, Stavroula, Bao, Xinhua, de Klerk, Nick, Leonard, Helen, Christodoulou, John
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3573195/
https://ncbi.nlm.nih.gov/pubmed/22872100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.156
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