A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype
一种导致侧脑膜膨出综合征的新型 NOTCH3 变异:产前诊断及表型可能的扩展
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000542432
Pasa, Isabela Dorneles; Frey, Alessandra Caren; Ferraciolli, Suelly Fazio; Lucato, Leandro Tavares; Azevedo Carvalho, Mariana; Pagotto, Mario Vitor Caldeira; Burlacchini De Carvalho, Mario Henrique; Pulcineli Vieira Francisco, Rossana; Honjo, Rachel Sayuri; Bertola, Debora Romeo; Kim, Chong Ae