Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
编码氧戊二酸脱氢酶的 OGDH 中的双等位基因变异会导致神经发育障碍,其特征是整体发育迟缓、运动障碍和代谢异常
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2022.11.001
Ella F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M Pittman, Henry Houlden, Erika