Article
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Human mutation - 1 May 2020
Scott Tiana M, Guo Hui, Eichler Evan E, Rosenfeld Jill A, Pang Kaifang, Liu Zhandong, Lalani Seema, Bi Weimin, Yang Yaping, Bacino Carlos A, Streff Haley, Lewis Andrea M, Koenig Mary K, Thiffault Isabelle, Bellomo Allison, Everman David B, Jones Julie R, Stevenson Roger E, Bernier Raphael, Gilissen Christian, Pfundt Rolph, Hiatt Susan M, Cooper Gregory M, Holder Jimmy L, Scott Daryl A
Abstract excerpt
The bromodomain adjacent to zinc finger 2B gene (BAZ2B) encodes a protein involved in chromatin remodeling. Loss of BAZ2B function has been postulated to cause neurodevelopmental disorders. To determine whether BAZ2B deficiency is likely to contribute to the pathogenesis of these disorders, we performed bioinformatics analyses that demonstrated a high level of functional convergence during fetal cortical...
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