KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.

Yunha ChoiJungmin ChoiHyosang DoSoojin HwangGo Hun SeoIn Hee ChoiChangwon KeumJin-Ho ChoiMinji KangGu-Hwan KimHan-Wook YooBeom-Hee Lee

Published in: Molecular genetics & genomic medicine (2022)

The clinical and molecular features of eight patients from seven unrelated Korean families with KBG syndrome described here will assist physicians in understanding this rare genetic condition.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
primary care
chronic kidney disease
case report
prognostic factors
cord blood
single molecule
genome wide
gene expression
patient reported outcomes
dna methylation
copy number