Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy

Qiqing SUN; Fangjie WANG; Linbo SU; Kun HE; Yingying LI; Chanjuan HAO; Wei LI; Jun GUO.
Chinese Journal of Medical Genetics ; (6): 1211-1216, 2023.
Artículo en Zh | WPRIM | ID: wpr-1009277

Documentos relacionados

  1. [Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy].
  2. A novel <i>MYBPC3</i> c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy.
  3. A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.
  4. [Analysis of phenotype and MYH7 gene variant in a family of patients with hypertrophic cardiomyopathy].
  5. Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy.
  6. The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy-A systematic review and meta-analysis.
  7. Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
  8. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy.
  9. Intermediate-effect size p.Arg637Gln in <i>FHOD3</i> increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
  10. Reconnoitering the Role of Long-Noncoding RNAs in Hypertrophic Cardiomyopathy: A Descriptive Review.