Expanding the clinical phenotype of patients with a ZDHHC9 mutation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 3, 2014, Pages 789-795

  Masurel Paulet, Alice ^a   Kalscheuer, Vera M ^b   Lebrun, Nicolas ^c   Hu, Hao ^b   Levy, Fabienne ^a   Thauvin Robinet, Christel ^a,d   Darmency Stamboul, Véronique ^a   El Chehadeh, Salima ^a   Thevenon, Julien ^a,d   Chancenotte, Sophie ^a   Ruffier Bourdet, Marie ^a   Bonnet, Marlène ^a   Pinoit, Jean Michel ^a   Huet, Frédéric ^a   Desportes, Vincent ^e   Chelly, Jamel ^c   Faivre, Laurence ^a,d  

^a Medical University of Dijon   (France)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c INSTITUT COCHIN   (France)

^d UNIVERSITÉ DE BOURGOGNE   (France)

^e HOSPICES CIVILS DE LYON   (France)

Author keywords

Dysplastic corpus callosum; X linked intellectual disability; ZDHHC9 gene

Indexed keywords

GENOMIC DNA; RISPERIDONE; SERTRALINE; VALPROMIDE;

ACROCYANOSIS; ADULT; AGGRESSION; ANXIETY DISORDER; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DEPRESSION; DISEASE SEVERITY; DNA DETERMINATION; EXON; FASCICULATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTERNATIONAL CLASSIFICATION OF DISEASES; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUTATOR GENE; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCUPATIONAL THERAPY; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEGREGATION ANALYSIS; SEIZURE; SEQUENCE ANALYSIS; SHORT TERM MEMORY; SLEEP DISORDER; SOCIAL PHOBIA; SPEECH THERAPY; STUTTERING; VISUAL IMPAIRMENT; X CHROMOSOME INACTIVATION; X LINKED INTELLECTUAL DISABILITY; YOUNG ADULT; ZDHHC9 GENE;

DYSPLASTIC CORPUS CALLOSUM; X-LINKED INTELLECTUAL DISABILITY; ZDHHC9 GENE;

ACYLTRANSFERASES; ADOLESCENT; ADULT; BRAIN; CHILD; FACIES; FATAL OUTCOME; GENES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84894284969     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36348     Document Type: Article

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