Genomic medicine [NEW TOPIC PAGE]

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 Genomic Medicine

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
BM Wenger et al, Genetics in Medicine, September 29, 2020

Substantial fractions of individuals harboring P/LP variants with partial or full phenotypic matches to a RASopathy or Marfan syndrome remain undiagnosed, some not meeting diagnostic criteria. Routine population genotyping would enable multidisciplinary care and avoid life-threatening events.