Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis.

Antonella FanelliSilvia VannelliDeepak BabuSimona MelloneAlessia CucciAlice MonzaniWael Al EssaAndrea SeccoAntonia FollenziSimonetta BelloneFlavia ProdamMara Giordano

Published in: Molecular genetics & genomic medicine (2021)

Our results strengthen the hypothesis that alterations of yet unidentified cis-regulatory elements residing outside those investigated through conventional methods, might explain the phenotype in ISS/LWD patients thus enlarging the spectrum of variants contributing to SHOX-haploinsufficiency.

Keyphrases

copy number
mitochondrial dna
end stage renal disease
chronic kidney disease
genome wide
ejection fraction
transcription factor
newly diagnosed
dna methylation
peritoneal dialysis
prognostic factors
binding protein
gene expression
mass spectrometry