Novel Autosomal Recessive Splice-Altering Variant in <i>PRKD1</i> Is Associated with Congenital Heart Disease

Novel Autosomal Recessive Splice-Altering Variant in <i>PRKD1</i> Is Associated with Congenital Heart Disease

Congenital heart defects (CHDs) are the most common types of birth defects, and global incidence of CHDs is on the rise. Despite the prevalence of CHDs, the genetic determinants of the defects are still in the process of being identified. Herein, we report a consanguineous Saudi family with three CH...

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Bibliographic Details
Main Authors:	Salam Massadeh, Maha Albeladi, Nour Albesher, Fahad Alhabshan, Kapil Dev Kampe, Farah Chaikhouni, Mohamed S. Kabbani, Christian Beetz, Manal Alaamery
Format:	Article
Language:	English
Published:	MDPI AG 2021-04-01
Series:	Genes
Subjects:	<i>PRKD1</i> congenital heart disease splice altering variant whole exome sequencing multiple affected
Online Access:	https://www.mdpi.com/2073-4425/12/5/612

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