Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.

Cristina Toledo-Gotor Cristina García-Muro Alberto García-OguizaMª Luisa Poch-OlivéMª Yolanda Ruiz-Del PradoElena Dominguez Garrido

Published in: Molecular genetics & genomic medicine (2022)

Some differential features could facilitate the diagnostic suspicion guiding the optimal diagnostic tests that should be requested in each case scenario.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
copy number
gene expression
patient reported outcomes