Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders

Abstract 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 W...

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Main Authors: Jihoon G. Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Jaeso Cho, Minji Kim, Jiye Han, Hyounji Yun, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Anna Cho, Jin Sook Lee, Murim Choi, Alberto Fernandez-Jaen, Sebastian Silva, Reinaldo Uribe-San-Martín, Christian Cantillano, Noriko Miyake, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Ki-Jun Yoon, Jong-Hee Chae
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Genome Medicine
Subjects:
Microcephaly
Head circumference
Neurodevelopmental disorder
Exome sequencing
Brain organoids
Online Access:https://doi.org/10.1186/s13073-025-01513-w
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