MECP2 duplication syndrome

Molecular Syndromology

Volumn 2, Issue 3-5, 2011, Pages 128-136

  Van Esch, H ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Array comparative genomic hybridization; Duplication; Epilepsy; Hypotonia; Intellectual disability; MECP2; Recurrent infections; Spasticity; X chromosome; Xq28

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; BRAIN MALFORMATION; CLINICAL FEATURE; CONSTIPATION; CRYPTORCHISM; DYSPHAGIA; EPILEPSY; FACE DYSMORPHIA; FAILURE TO THRIVE; GAIT DISORDER; GASTROESOPHAGEAL REFLUX; GASTROINTESTINAL MOTILITY DISORDER; GASTROINTESTINAL SYMPTOM; GENE DUPLICATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HIP CONTRACTURE; HUMAN; HYDRONEPHROSIS; HYPERSALIVATION; HYPOSPADIAS; INFANTILE HYPOTONIA; INTELLECTUAL IMPAIRMENT; JOINT CONTRACTURE; MECP2 DUPLICATION SYNDROME; MOOD DISORDER; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NEURORADIOLOGY; NOSE FEEDING; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SEIZURE; SPASTICITY; SPEECH DISORDER; STEREOTYPY;

EID: 84860156764     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000329580     Document Type: Article

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