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Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review
BACKGROUND: Dilated cardiomyopathy type-2D (CMD2D) is a rare heart disease causing a severe cardiomyopathy with neonatal onset and rapid progression to cardiac decompensation and death in untreated patients. CMD2D is an autosomal recessive disease resulting from variants in the RPL3L gene, which enc...
Autores principales: | Yang, Qi, Zhang, Qiang, Qin, Zailong, Zhang, Shujie, Yi, Sheng, Yi, Shang, Zhang, Qinle, Luo, Jingsi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258480/ https://www.ncbi.nlm.nih.gov/pubmed/37308880 http://dx.doi.org/10.1186/s12920-023-01567-y |
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