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

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....

Full description

Bibliographic Details
Main Authors: Ekaterina R. Tolmacheva, Jekaterina Shubina, Taisiya O. Kochetkova, Lubov’ V. Ushakova, Ekaterina L. Bokerija, Grigory S. Vasiliev, Galina V. Mikhaylovskaya, Ekaterina E. Atapina, Nadezhda V. Zaretskaya, Gennady T. Sukhikh, Denis V. Rebrikov, Dmitriy Yu. Trofimov
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Genes
Subjects:
dilated cardiomyopathy
neurodevelopmental disorder
whole exome sequencing
WES
trio
<i>CAMK2D</i>
Online Access:https://www.mdpi.com/2073-4425/14/6/1177

Internet

https://www.mdpi.com/2073-4425/14/6/1177

Similar Items