Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy

A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. Methods: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger sequencing for the proband and her parents. Results:...

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Detalles Bibliográficos
Autores principales: Orlova, Anna, Guseva, Daria, Ryzhkova, Oxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603937/
https://www.ncbi.nlm.nih.gov/pubmed/36293425
http://dx.doi.org/10.3390/ijms232012506

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603937/
https://www.ncbi.nlm.nih.gov/pubmed/36293425
http://dx.doi.org/10.3390/ijms232012506

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