Article
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Human mutation - 1 Jan 2022
Fanjul-Fernández Miriam, Brown Natasha J, Hickey Peter, Diakumis Peter, Rafehi Haloom, Bozaoglu Kiymet, Green Cherie C, Rattray Audrey, Young Savannah, Alhuzaimi Dana, Mountford Hayley S, Gillies Greta, Lukic Vesna, Vick Tanya, Finlay Keri, Coe Bradley P, Eichler Evan E, Delatycki Martin B, Wilson Sarah J, Bahlo Melanie, Scheffer Ingrid E, Lockhart Paul J
Abstract excerpt
Autism spectrum disorders (ASD) are neurodevelopmental disorders with an estimated heritability of >60%. Family-based genetic studies of ASD have generally focused on multiple small kindreds, searching for de novo variants of major effect. We hypothesized that molecular genetic analysis of large multiplex families would enable the identification of variants of milder effects. We studied a large multigenerational...
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