Article
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
American journal of human genetics - 3 Dec 2020
Barish Scott, Barakat Tahsin Stefan, Michel Brittany C, Mashtalir Nazar, Phillips Jennifer B, Valencia Alfredo M, Ugur Berrak, Wegner Jeremy, Scott Tiana M, Bostwick Brett, Murdock David R, Dai Hongzheng, Perenthaler Elena, Nikoncuk Anita, van Slegtenhorst Marjon, Brooks Alice S, Keren Boris, Nava Caroline, Mignot Cyril, Douglas Jessica, Rodan Lance, Nowak Catherine, Ellard Sian, Stals Karen, Lynch Sally Ann, Faoucher Marie, Lesca Gaetan, Edery Patrick, Engleman Kendra L, Zhou Dihong, Thiffault Isabelle, Herriges John, Gass Jennifer, Louie Raymond J, Stolerman Elliot, Washington Camerun, Vetrini Francesco, Otsubo Aiko, Pratt Victoria M, Conboy Erin, Treat Kayla, Shannon Nora, Camacho Jose, Wakeling Emma, Yuan Bo, Chen Chun-An, Rosenfeld Jill A, Westerfield Monte, Wangler Michael, Yamamoto Shinya, Kadoch Cigall, Scott Daryl A, Bellen Hugo J
Abstract excerpt
SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neurodevelopmental disorders characterized by developmental disability, coarse facial features, and fifth digit/nail hypoplasia that are caused by pathogenic variants in genes that encode for members of the SWI/SNF (or BAF) family of chromatin remodeling complexes. We have identified 12 individuals with rare variants (10 loss-of-function, 2...
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