Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2409-2415

  Verhoeven, Willem M A ^a,b   Egger, Jos I M ^a,c   Vermeulen, Karlijn ^c   van de Warrenburg, Bart P C ^d   Kleefstra, Tjitske ^e  

^a VINCENT VAN GOGH INSTITUTE FOR PSYCHIATRY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Apathy syndrome; EHMT1 gene; Intellectual disability; Kleefstra syndrome; Neurodevelopmental disorder

Indexed keywords

ANTIDEPRESSANT AGENT; ARIPIPRAZOLE; NEUROLEPTIC AGENT; PSYCHOTROPIC AGENT;

ADOLESCENT; ADULT; ARTICLE; AUTISM; BEHAVIOR DISORDER; BRAIN HEMANGIOMA; CASE REPORT; CHILD; CHROMOSOME 9Q; CHROMOSOME DELETION; CORPUS CALLOSUM AGENESIS; DEGENERATIVE DISEASE; DEPRESSIVE PSYCHOSIS; DISEASE SEVERITY; EHMT1 GENE; FEMALE; GENE; GENE MUTATION; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; KLEEFSTRA SYNDROME; MOTOR DYSFUNCTION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; HUMANS; INTELLECTUAL DISABILITY; NEURODEGENERATIVE DISEASES; PHENOTYPE; SEQUENCE DELETION; SYNDROME;

EID: 80053094981     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34186     Document Type: Article

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