Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.

X LinJ HuB ZhouQ ZhangY JiangO WangW XiaX XingMei Li

Published in: Journal of endocrinological investigation (2023)

The findings are valuable for accurate diagnosis and treatment of OI, mechanism exploration and prognosis judgment. Genetic profiles of OI may vary among races, but the mechanism needs to be explored.

Keyphrases

south africa
genome wide
high resolution
copy number
mass spectrometry