Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.
Berland
Siren
S
Department of Clinical Genetics, St. Olavs Hospital HF, Trondheim Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen Department of Clinical Medicine, University of Bergen, Norway.
Houge
Gunnar
G
D002648:Child; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D002658:Developmental Disabilities / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007601:Jugular Veins; D026161:MADS Domain Proteins / Q000235:genetics*; D064326:MEF2 Transcription Factors; D008279:Magnetic Resonance Imaging; D018006:Myogenic Regulatory Factors / Q000235:genetics*
D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human; D018006:Myogenic Regulatory Factors