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Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
Mercan, Sevcan; Akcakaya, Nihan Hande; Salman, Baris; Yapici, Zuhal; Ozbek, Ugur; Ugur Iseri, Sibel Aylin (Springer, 2023)Background Syndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting extreme genetic and clinical heterogeneity. This layered heterogeneity can ...