Variable skeletal phenotypes associated with biallelic variants in PRKG2.

Alistair T Pagnamenta Francisca Díaz-GonzálezBenito Banos-PineroMatteo P FerlaMehran B ToosiAlistair D CalderEhsan G KarimianiMohammad DoostiAndrew WainwrightPaul WordsworthKathryn BaileyKatarina EjeskärTracy LesterReza MaroofianKaren E HeathHoma TajsharghiDeborah ShearsJenny C Taylornull null

Published in: Journal of medical genetics (2021)

Keyphrases

copy number
intellectual disability
gene expression
dna methylation