A severe clinical phenotype of Noonan syndrome concomitant with incomplete Cantrell syndrome

Pediatr Int. 2022 Jan;64(1):e15139. doi: 10.1111/ped.15139.
No abstract available

Keywords: RAF1 gene; RAS/MAPK pathway; hypertrophic cardiomyopathy; mesoderm development; pulmonary hypertension.

MeSH terms

  • Cardiomyopathy, Hypertrophic*
  • Humans
  • Mutation
  • Noonan Syndrome* / complications
  • Noonan Syndrome* / diagnosis
  • Noonan Syndrome* / genetics
  • Phenotype