Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome - Campeau, Philippe M.; Kim, Jaeseung C.; Lu, James T.; Schwartzentruber, Jeremy A.; Abdul-Rahman, Omar A.; Schlaubitz, Silke; Murdock, David M.; Jiang, Ming-Ming; Lammer, Edward J.; Enns, Gregory M.; Rhead, William J.; Rowland, Jon; et al. (American journal of human genetics, 2012)
Keywords: Abnormalities, Multiple - enzymology; Abnormalities, Multiple - genetics; Animals; Biological and medical sciences; Blepharophimosis - enzymology; Blepharophimosis - genetics; Blepharoptosis - enzymology; Blepharoptosis - genetics; Bone Diseases, Developmental - enzymology; Bone Diseases, Developmental - genetics; Cells; Cerebellum - abnormalities; Epigenetics; Epigenomics - methods; Exome; Female; Fundamental and applied biological sciences. Psychology; Gene expression; General aspects. Genetic counseling; Genetic research; Genetics of eukaryotes. Biological and molecular evolution; Heart Defects, Congenital - enzymology; Heart Defects, Congenital - genetics; Heterozygote; Histone Acetyltransferases - genetics; Humans; Intellectual Disability - enzymology; Intellectual Disability - genetics; Male; Medical genetics; Medical sciences; Mice; Mice, Inbred C57BL; Molecular and cellular biology; Musculoskeletal Abnormalities - enzymology; Musculoskeletal Abnormalities - genetics; Mutation; Phenotype; Proteins; Rodents; Rubinstein-Taybi Syndrome - enzymology; Rubinstein-Taybi Syndrome - genetics; Sequence Analysis, DNA - methods; Urogenital Abnormalities - enzymology; Urogenital Abnormalities - genetics; Human; Acyltransferases; Enzyme; Transferases; Genetics; Mutation; Histone acetyltransferase