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Autosomal recessive primary microcephaly (MCPH) and novel pathogenic variants in ASPM and WDR62 genes
Bolat, Hilmi; Sağer, Safiye Güneş; Türkyılmaz, Ayberk; Çebi, Alper Han; Akın, Yasemin; Onay, Hüseyin; Özkınay, Ferda; Bolat, Gül Ünsel (Karger, 2022)Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with ...