Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case.

Xiaojun HanYang XuZhanying WeiChun WangHua Yue Zhen-Lin Zhang

Published in: Molecular genetics & genomic medicine (2022)

This is a summary of the clinical characteristics of Chinese MEL patients and we first identify the somatic MAP2K1 variant in Chinese patients. Our findings validate the molecular genetic mechanism of MEL and broaden its phenotype spectrum in the Chinese population.

Keyphrases

end stage renal disease
copy number
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
genome wide
gene expression
high density
dna methylation