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Novel Autosomal Recessive Splice-Altering Variant in PRKD1 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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Bibliografske podrobnosti
izdano v:Genes (Basel)
Main Authors: Massadeh, Salam, Albeladi, Maha, Albesher, Nour, Alhabshan, Fahad, Kampe, Kapil Dev, Chaikhouni, Farah, Kabbani, Mohamed S., Beetz, Christian, Alaamery, Manal
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2021
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8143129/
https://ncbi.nlm.nih.gov/pubmed/33919081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050612
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