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https://dora.health.qld.gov.au/qldresearchjspui/handle/1/2960| Title: | Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) | Authors: | Tan, T. Y. Coman, D. Kamien, B. White, S. M. St John, M. Phelan, D. Rigbye, K. Lim, S. C. Torres, M. C. Marty, M. Savva, E. Zhao, T. Massey, S. Christodoulou, J. Gold, W. A. Murgia, A. Kaur, S. Van Bergen, N. J. Ben-Zeev, B. Leonardi, E. |
Issue Date: | 2020 | Source: | 47, (10), 2020, p. 650-654 | Pages: | 650-654 | Journal: | Journal of Genetics and Genomics | Abstract: | L20105224622021-01-15 | DOI: | 10.1016/j.jgg.2020.09.003 | Resources: | https://www.embase.com/search/results?subaction=viewrecord&id=L2010522462&from=exporthttp://dx.doi.org/10.1016/j.jgg.2020.09.003 | | Keywords: | microcephaly;nonsense mediated mRNA decay;patent ductus arteriosus;prematurity;pulmonary artery stenosis;recurrent infection;Rett syndrome;sleep disorder;sleep disordered breathing;speech delay;strabismus;transactivation;visual impairment;letter;male;myelination;aspartic acidglutamic acid;lysine acetyltransferase;lysine acetyltransferase 6a;messenger RNA;methionine;methyl CpG binding protein 2;serine;transcriptome;unclassified drug;Arnold Chiari malformation;breath holding;child;clinical article;clinical feature;clonal deletion;cognitive defect;constipation;craniofacial synostosis;cryptorchism;developmental delay;disease association;epicanthus;exon;face dysmorphia;feeding difficulty;female;frameshift mutation;gastroesophageal reflux;genetic analysis;genetic association;heart atrium septum defect;heart disease;heart ventricle septum defect;heterozygote;high arched palate;high throughput sequencing;human;hydronephrosis;hypsarrhythmia;infantile spasm;intellectual impairment;intestine malrotation;intestine obstruction;learning | Type: | Article |
| Appears in Sites: | Children's Health Queensland Publications Queensland Health Publications |
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