The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects
TBL1XR1基因缺陷患者的神经系统表现谱
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03083-3
Nagy, Amanda; Molay, Francine; Hargadon, Sarah; Brito Pires, Claudia; Grant, Natalie; De La Rosa Abreu, Lizbeth; Chen, Jin Yun; D'Souza, Precilla; Macnamara, Ellen; Tifft, Cynthia; Becker, Catherine; Melo De Gusmao, Claudio; Khurana, Vikram; Neumeyer, Ann M; Eichler, Florian S
