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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2013
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge