Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
先天性骨骼发育不良合并心脏畸形患者中3个基因变异的共存：混合表型带来的诊断挑战
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000542345
Nair, Pratibha; Bizzari, Sami; Mehawej, Cybel; Chouery, Eliane; Audi, Perla; Corbani, Sandra; Korban, Rima; Mahfoud, Daniel; Superti-Furga, Andrea; El-Hayek, Stepahny; Megarbane, Andre
