Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

Elizabeth Joyce BhojZhenming YuQiaoning GuanRebecca Ahrens-NicklasKajia CaoMinjie LuoTanya TischlerMatthew A DeardorffElaine ZackaiAvni B Santani

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

This study provides information that can assist in guiding differential diagnosis and genetic testing for patients suspected of having a RASopathy disorder.Genet Med advance online publication 20 October 2016.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
pulmonary embolism
social media
health information
drug delivery
copy number
circulating tumor cells
circulating tumor