Further Evidence of Autosomal Recessive Inheritance of RPL3L Pathogenic Variants with Rapidly Progressive Neonatal Dilated Cardiomyopathy

Neonatal dilated cardiomyopathy (DCM) is rare with high etiologic heterogeneity. Recently, biallelic, autosomal recessive, pathogenic variants in RPL3L (ribosomal protein L3-like) have been reported in the literature with severe early-onset DCM. In the present brief report, we identified two pathoge...

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Detalles Bibliográficos
Autores principales: Nannapaneni, Hemanth, Ghaleb, Stephanie, Arya, Sandeep, Gajula, Viswanath, Taylor, Mary B., Das, Bibhuti B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955827/
https://www.ncbi.nlm.nih.gov/pubmed/35323613
http://dx.doi.org/10.3390/jcdd9030065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955827/
https://www.ncbi.nlm.nih.gov/pubmed/35323613
http://dx.doi.org/10.3390/jcdd9030065

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