Article
Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.
PLoS genetics - 1 Nov 2015
Wu Yaning, Gause Maria, Xu Dongbin, Misulovin Ziva, Schaaf Cheri A, Mosarla Ramya C, Mannino Elizabeth, Shannon Megan, Jones Emily, Shi Mi, Chen Wen-Feng, Katz Olivia L, Sehgal Amita, Jongens Thomas A, Krantz Ian D, Dorsett Dale
Abstract excerpt
Individuals with Cornelia de Lange Syndrome (CdLS) display diverse developmental deficits, including slow growth, multiple limb and organ abnormalities, and intellectual disabilities. Severely-affected individuals most often have dominant loss-of-function mutations in the Nipped-B-Like (NIPBL) gene, and milder cases often have missense or in-frame deletion mutations in genes encoding subunits of the cohesin...
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