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Genetic variant in the BRAF gene compatible with Noonan spectrum disorders in an adult Fontan patient with refractory protein losing enteropathy: a follow-up report.

Marieke NederendJ Lauran StogerAnastasia D EgorovaDaniela Q C M Barge-SchaapveldMonique R M Jongbloed
Published in: European heart journal. Case reports (2023)
Genetic screening can provide new insights in the complex and varied phenotype of the (adult) Fontan patient and in the myriad of complications encountered. Adult CHD cardiologists should be aware of genetic syndromes underlying a CHD, concomitant extracardiac anomalies, and a complex clinical course with a broad spectrum of late sequelae.
Keyphrases
  • genome wide
  • copy number
  • case report
  • dna methylation
  • risk factors
  • childhood cancer
  • gene expression
  • protein protein