Article
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
American journal of medical genetics. Part A - 1 Mar 2024
Sewani Soha, Azamian Mahshid S, Mendelsohn Bryce A, Mau-Them Frederic Tran, Réda Manon, Nambot Sophie, Isidor Bertrand, van der Smagt Jasper J, Shen Joseph J, Shillington Amelle, White Lori, Elloumi Houda Zghal, Baker Peter R, Svihovec Shayna, Brown Kathleen, Koopman-Keemink Yvonne, Hoffer Mariette J V, Lakeman Inge M M, Brischoux-Boucher Elise, Kinali Maria, Zhao Xiaonan, Lalani Seema R, Scott Daryl A
Abstract excerpt
The bromodomain adjacent to zinc finger 2B (BAZ2B) gene encodes a chromatin remodeling protein that has been shown to perform a variety of regulatory functions. It has been proposed that loss of BAZ2B function is associated with neurodevelopmental phenotypes, and some recurrent structural birth defects and dysmorphic features have been documented among individuals carrying heterozygous loss-of-function BAZ2B...
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