Biallelic Madd Variants Cause A Phenotypic Spectrum Ranging from Developmental Delay to A Multisystem Disorder
P. E. Schneeberger,F. Kortuem,G. C. Korenke,M. Alawi,R. Santer,M. Woidy,D. Buhas,S. Fox,D. McKnight,M. Alfadhel,B. D. Webb,E. G. Coci,R. Abou Jamra, A. Finck,M. Siekmeyer,S. Biskup,C. Heller, E. M. Maier, P. Javaher-Haghighi,M. F. Bedeschi,P. F. Ajmone,M. Iascone,H. Peeters,K. Ballon,J. Jaeken, A. Rodriguez Alonso,M. Palomares-Bralo,F. Santos-Simarro,M. E. C. Meuwissen,D. Beysen,R. Kooy,H. Houlden,D. Murphy,M. Doosti,E. G. Karimiani,M. Mojarrad,R. Maroofian,B. D. Gelb,I. Kurth,M. Hempel,K. Kutsche Brain（2020）
关键词
DENN,multisystem,whole-exome sequencing,intellectual disability,HSAN
AI 理解论文
溯源树
样例
