Fabry pedigree analysis: A successful program for targeted genetic approach.

Paula Adriana RozenfeldFrancisca M MasllorensNorma RoaFernanda RodriguezMariela BonnanoCarolina YvorraRomina Ceci

Published in: Molecular genetics & genomic medicine (2019)

The targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
replacement therapy
chronic kidney disease
cancer therapy
prognostic factors
peritoneal dialysis
genome wide
atrial fibrillation
dna methylation