Article
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
European journal of human genetics : EJHG - 1 May 2024
Urpa Lea, Kurki Mitja I, Rahikkala Elisa, Hämäläinen Eija, Salomaa Veikko, Suvisaari Jaana, Keski-Filppula Riikka, Rauhala Merja, Korpi-Heikkilä Satu, Komulainen-Ebrahim Jonna, Helander Heli, Vieira Päivi, Uusimaa Johanna, Moilanen Jukka S, Körkkö Jarmo, Singh Tarjinder, Kuismin Outi, Pietiläinen Olli, Palotie Aarno, Daly Mark J
Abstract excerpt
Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as the low extreme of the general distribution of intelligence, while severe ID is often seen as a monogenic disorder caused by rare, pathogenic, highly penetrant variants. To investigate the genetic factors influencing mild and severe ID, we evaluated rare...
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