Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
KYNU基因的双等位基因变异会导致一种伴有手部指骨过度发育的多系统综合征。
期刊:
影响因子:
doi:10.1016/j.bone.2019.115219
Ehmke, Nadja; Cusmano-Ozog, Kristina; Koenig, Rainer; Holtgrewe, Manuel; Nur, Banu; Mihci, Ercan; Babcock, Holly; Gonzaga-Jauregui, Claudia; Overton, John D; Xiao, Jing; Martinez, Ariel F; Muenke, Maximilian; Balzer, Alexander; Jochim, Judith; El Choubassi, Naji; Fischer-Zirnsak, Björn; Huber, Céline; Kornak, Uwe; Elsea, Sarah H; Cormier-Daire, Valérie; Ferreira, Carlos R
