在 Baraitser - Winter 综合征伴小脑发育不全和膈疝的非典型病例中 , 一种新型 ACTB 变体。
Mesh : Humans Hernias, Diaphragmatic, Congenital / diagnosis genetics Nervous System Malformations Cerebellum / abnormalities Developmental Disabilities Growth Disorders Hydrocephalus Facies Obesity Mental Retardation, X-Linked
来 源: DOI:10.1097/MCD.0000000000000484