Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

Tojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen Hann Tan, Ramzi Nasir, Klaus Schmitz-Abe, R. Sean Hill, Jennifer N. Partlow, Muna Al-Saffar, Sarah Servattalab, Christopher M. Lacoursiere, Dimira E. Tambunan, Michael E. Coulter, Princess C. Elhosary, Grzegorz Gorski, A. James Barkovich, Kyriacos MarkianosAnnapurna Poduri, Ganeshwaran H. Mochida^*إظهار 2 المزيدإظهار أقل