INPP5E 相关 Joubert 综合征一例 : 将进化表型与新基因型联系起来。
关键词: Exotropia Head bobbing INPP5E Joubert syndrome Oculomotor apraxia
Mesh : Humans Cerebellum / diagnostic imaging Abnormalities, Multiple / genetics Kidney Diseases, Cystic / genetics Retina / diagnostic imaging Eye Abnormalities / diagnosis genetics Phosphoric Monoester Hydrolases / genetics metabolism Phenotype Genotype
来 源: DOI:10.1016/j.pediatrneurol.2023.04.021