CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report

Background: Intellectual disability with developmental delay is the most common developmental disorder. However, this diagnosis is rarely associated with congenital cardiomyopathy. In the current report, we present the case of a patient suffering from dilated cardiomyopathy and developmental delay....

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Detalles Bibliográficos
Autores principales: Tolmacheva, Ekaterina R., Shubina, Jekaterina, Kochetkova, Taisiya O., Ushakova, Lubov’ V., Bokerija, Ekaterina L., Vasiliev, Grigory S., Mikhaylovskaya, Galina V., Atapina, Ekaterina E., Zaretskaya, Nadezhda V., Sukhikh, Gennady T., Rebrikov, Denis V., Trofimov, Dmitriy Yu.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298453/
https://www.ncbi.nlm.nih.gov/pubmed/37372357
http://dx.doi.org/10.3390/genes14061177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298453/
https://www.ncbi.nlm.nih.gov/pubmed/37372357
http://dx.doi.org/10.3390/genes14061177

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