Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
双等位基因 MADD 变异可导致一系列表型，从发育迟缓到多系统疾病
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awaa204
Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy, Daniela Buhas, Stephanie Fox, Jane Juusola, Majid Alfadhel, Bryn D Webb, Emanuele G Coci, Rami Abou Jamra, Manuela Siekmeyer, Saskia Biskup, Corina Heller, Esther M Maier, Poupak Javaher-Haghighi,
