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Impaired neurodevelopmental genes in Slovenian autistic children elucidate the comorbidity of autism with other developmental disorders
Danijela Krgović, Mario Gorenjak, Nika Rihar, Iva Opalič, Špela Stangler Herodež, Hojka Gregorič Kumperščak, Peter Dovč, Nadja Kokalj-Vokač
Izvirni znanstveni članek
Oznake: reverse phenotyping;single event variants;NDD-associated genes;GRIA1 gene;NR4A2 gene;SIN3B gene;autism;child;
Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WES) has become predominant in molecular diagnostics ...
Leto: 2022 Vir: Univerza v Mariboru (UM)
Št. zadetkov: 1
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