CTNNB1 基因突变与神经发育障碍,小头畸形,双侧原发性玻璃体增生症和持续性 : 1 例报告并文献复习。
关键词: CTNNB1 gene Developmental disabilities Discapacidades del desarrollo Gen CTNNB1 Microcefalia Microcephaly Microftalmia Microphthalmia Persistence hyperplastic primary vitreous Persistent fetal vasculature Vasculatura fetal persistente Vítreo primario hiperplásico persistente
Mesh : Child Humans Microcephaly / genetics Mutation Neurodevelopmental Disorders Persistent Hyperplastic Primary Vitreous Vitreous Body beta Catenin / genetics
来 源: DOI:10.1016/j.oftale.2020.11.018