Article
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Genome medicine - 6 Aug 2025
Yoon Jihoon G, Jang Hyunsoo, Lee Seungbok, Jang Se Song, Park Soojin, Cho Jaeso, Kim Minji, Han Jiye, Yun Hyounji, Kim Man Jin, Kim Soo Yeon, Kim Woo Joong, Cho Anna, Lee Jin Sook, Choi Murim, Fernandez-Jaen Alberto, Silva Sebastian, Uribe-San-Martín Reinaldo, Cantillano Christian, Miyake Noriko, Lim Byung Chan, Ko Jung Min, Kim Ki Joong, Yoon Ki-Jun, Chae Jong-Hee
Abstract excerpt
BACKGROUND: Microcephaly, characterized by an abnormally small head size, frequently co-occurs with neurodevelopmental disorders (NDDs). While the genetic basis of NDDs has been widely investigated, the contribution of rare coding variants to microcephaly remains poorly understood. METHODS: We investigated the relationships between head circumference and rare coding variants in 418 individuals with microcephaly,...
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