Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

• Asıl Yazarlar: Qi Yang (Yazar), Qiang Zhang (Yazar), Zailong Qin (Yazar), Shujie Zhang (Yazar), Sheng Yi (Yazar), Shang Yi (Yazar), Qinle Zhang (Yazar), Jingsi Luo (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2023-06-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract 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, w...