Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction

Background Ebstein's anomaly (EA) is a rare congenital heart disease of the tricuspid valve and right ventricle. Patients with EA often manifest with left ventricular noncompaction (LVNC), a cardiomyopathy. Despite implication of cardiac sarcomere genes in some cases, very little is understood...

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Vydáno v:	Molecular genetics & genomic medicine Ročník 8; číslo 4; s. e1152 - n/a
Hlavní autoři:	Samudrala, Sai Suma K., North, Lauren M., Stamm, Karl D., Earing, Michael G., Frommelt, Michele A., Willes, Richard, Tripathi, Swarnendu, Dsouza, Nikita R., Zimmermann, Michael T., Mahnke, Donna K., Liang, Huan Ling, Lund, Michael, Lin, Chien‐Wei, Geddes, Gabrielle C., Mitchell, Michael E., Tomita‐Mitchell, Aoy
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States John Wiley & Sons, Inc 01.04.2020 John Wiley and Sons Inc Wiley
Témata:	Adult Age Binding Sites Biodegradation Cardiomyopathy Cardiovascular diseases Child Child, Preschool Children & youth Chromosome 19 Chromosomes congenital heart defects Coronary artery disease Cullin Proteins - metabolism Ebstein Anomaly - genetics Ebstein Anomaly - pathology Ebstein's anomaly Echocardiography Electrostatic properties Etiology Families & family life Female Genes Genetic Testing Heart Defects, Congenital - genetics Heart Defects, Congenital - pathology Heart diseases Humans Infant, Newborn Kelch‐like family member 26 left‐ventricular noncompaction Loss of Function Mutation Male Middle Aged Original Pedigree Phenotypes Prediction models Premature birth Proteasomes Protein Binding Proteins Rheumatic heart disease Sequence analysis Transcription factors Tricuspid valve Ubiquitin ubiquitin proteasome Ubiquitin-protein ligase Ventricle United States > US Wisconsin Kelch-like family member 26 left-ventricular noncompaction Ebstein's anomaly ubiquitin proteasome congenital heart defects
ISSN:	2324-9269, 2324-9269
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