Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
与先天性小头畸形、发育迟缓和可识别的神经影像学特征相关的MFSD2A双等位基因变异
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-0669-x
Scala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Chiara Manzini, M; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza; Silver, David L