Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate - Lindgren, Amelia M.; Hoyos, Tatiana; Talkowski, Michael E.; Hanscom, Carrie; Blumenthal, Ian; Chiang, Colby; Ernst, Carl; Pereira, Shahrin; Ordulu, Zehra; Clericuzio, Carol; Drautz, Joanne M.; Rosenfeld, Jill A.; et al. (Human genetics, 2013)
Keywords: Abnormalities, Multiple - genetics; Animals; Biomedical and Life Sciences; Biomedicine; Birth defects; Branchial Region - enzymology; Cell Line; Chromosome 5; Chromosomes, Human, Pair 5 - genetics; Cleft lip/palate; Cleft palate; Cleft Palate - genetics; Comparative Genomic Hybridization; Copy number; Danio rerio; DNA Copy Number Variations; DNA sequencing; Female; Fluorescence; Fluorescence in situ hybridization; Gene Function; Gene Knockdown Techniques; Genomes; Genomics; Growth; Haploinsufficiency; Haploinsufficiency - genetics; Histone Demethylases - genetics; Histone Demethylases - metabolism; Histone methyltransferase; Human Genetics; Humans; Hybridization; Intellectual disabilities; Intellectual Disability - genetics; Karyotyping; Lysine; Metabolic Diseases; Methyltransferase; Microcephaly; Microcephaly - genetics; Microencephaly; Molecular Medicine; Muscle Hypotonia - genetics; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Nucleotide sequencing; Original Investigation; Pharynx; Phenotype; Phenotypes; Psychomotor Disorders - genetics; Seizures; Seizures (Medicine); Seizures - genetics; Translocation, Genetic; Whole genome sequencing; X Chromosome - genetics; Young Adult; Zebrafish - embryology; Zebrafish - genetics; Zebrafish - growth & development; Zebrafish Proteins - genetics; Zebrafish Proteins - metabolism; Cleft Palate; Dysmorphic Facial Feature; Pharyngeal Arch; Translocation Breakpoint; Kabuki Syndrome