Identification of two homozygous variants in mybpc3 and smyd1 genes associated with severe infantile cardiomyopathy

HIGHLIGHTS

  • who: Marta W. Szulik and colleagues from the Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, Salt Lake City, UT, USA have published the Article: Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy, in the Journal: Genes 2023, 659 of /2023/
  • what: The authors report the genetic findings of two siblings carrying variations in the and SMYD1 The authors report a patient with biventricular heart failure carrying two homozygous variants. The authors report the clinical presentation of two infants carrying a homozygous variant c.1224 . . .

     

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