New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation

Complex neuropsychiatric-cardiac syndromes can be genetically determined. For the first time, the authors present a syndromal form of short QT syndrome in a 34-year-old German male patient with extracardiac features with predominant psychiatric manifestation, namely a severe form of secondary high-f...

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Detalles Bibliográficos
Autores principales: Endres, Dominique, Decher, Niels, Röhr, Isabell, Vowinkel, Kirsty, Domschke, Katharina, Komlosi, Katalin, Tzschach, Andreas, Gläser, Birgitta, Schiele, Miriam A., Runge, Kimon, Süß, Patrick, Schuchardt, Florian, Nickel, Kathrin, Stallmeyer, Birgit, Rinné, Susanne, Schulze-Bahr, Eric, Tebartz van Elst, Ludger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7696251/
https://www.ncbi.nlm.nih.gov/pubmed/33203140
http://dx.doi.org/10.3390/ijms21228611

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