Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant
两例新的肢端中段发育不良患者，PRKG2 基因型鉴定及首个错义变异的特征分析
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01472-z
Akgun-Dogan, Ozlem; Díaz-González, Francisca; de Lima Jorge, Alexander Augusto; Onenli-Mungan, Neslihan; Menezes Andrade, Nathalia Liberatoscioli; de Polli Cellin, Laurana; Ceylaner, Serdar; Barcellos Rosa Modkovski, Maria; Alanay, Yasemin; Heath, Karen E
