Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Marcello Scala, Geok Lin Chua, Cheen Fei Chin, Hessa S. Alsaif, Artem Borovikov, Saima Riazuddin, Sheikh Riazuddin, M. Chiara Manzini, Mariasavina Severino, Alvin C. Y. Kuk, Hao Fan, Yalda Jamshidi, Mehran Beiraghi Toosi, Mohammad Doosti, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Е. Л. Дадали, Galina Baydakova, Fedor A. Konovalov, Ekaterina Lozier, Emer O’Connor, Yasser Sabr, Abdullah Alfaifi, Farah Ashrafzadeh, Pasquale Striano, Federico Zara, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian, David L. Silver