Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype
Author:
Affiliation:
1. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University; Baltimore Maryland
2. Rare Disease Institute Genetics and Metabolism; Children's National Health System; Washington District of Columbia
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference32 articles.
1. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability;Andersen;American Journal of Medical Genetics Part A,2014
2. Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications;Bartsch;American Journal of Medical Genetics Part A,2010
3. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair;Bauters;Genome Research,2008
4. Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training;Bianchi;Human Molecular Genetics,2009
5. Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor;Bienvenu;Human Molecular Genetics,1998
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2. Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome;BMC Medical Genomics;2023-03-06
3. Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance;Clinical Genetics;2023-02-16
4. Corrigendum to “Intellectual disability and epilepsy due to the K/L‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype. Am J Med Genet Part A. 2018;176(3):551‐559”;American Journal of Medical Genetics Part A;2020-11-13
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