Article
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Human genetics - 1 Jul 2016
Okur Volkan, Cho Megan T, Henderson Lindsay, Retterer Kyle, Schneider Michael, Sattler Shannon, Niyazov Dmitriy, Azage Meron, Smith Sharon, Picker Jonathan, Lincoln Sharyn, Tarnopolsky Mark, Brady Lauren, Bjornsson Hans T, Applegate Carolyn, Dameron Amy, Willaert Rebecca, Baskin Berivan, Juusola Jane, Chung Wendy K
Abstract excerpt
Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with a neurodevelopmental disorder associated with developmental delay, intellectual disability,...
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