Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 2043-2047

  Fernández Jaén, Alberto ^a   Castellanos, María del Carmen ^b   Fernández Perrone, Ana Laura ^a   Fernández Mayoralas, Daniel Martín ^a   de la Vega, Alberto González ^c   Calleja Pérez, Beatriz ^d   Fernández, Ester Corbacho ^c   Albert, Jacobo ^e   Hombre, María Carmen Sánchez ^c  

^a Quiron University Hospital   (Spain)

^b Gemolab Laboratory   (Spain)

^c CGC Genetics   (Spain)

^d Doctor Cirajas Healthcare Center   (Spain)

^e INSTITUTO PLURIDISCIPLINAR   (Spain)

Author keywords

3q29 microduplication; Cerebral palsy; Epilepsy; Membrane proteins; P21 activated kinases

Indexed keywords

3 HYDROXYBUTYRATE DEHYDROGENASE; DROSOPHILA PROTEIN; F BOX PROTEIN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; NUCLEAR CAP BINDING PROTEIN; P21 ACTIVATED KINASE 2; SODIUM GLUCOSE COTRANSPORTER 1; SUMO 1 PROTEIN; TRANSFERRIN RECEPTOR; UBIQUITIN PROTEIN LIGASE E3;

3Q29 MICRODUPLICATION SYNDROME; ARTICLE; BDH1 GENE; CASE REPORT; CEP19 GENE; CEREBRAL PALSY; CHILD; CHROMOSOME DUPLICATION; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DLG1 GENE; EPILEPSY; FBXO45 GENE; FEMALE; GENE; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; LOC152217 GENE; MEDICAL HISTORY; MFI2 GENE; NCBP2 GENE; NERVE CELL DIFFERENTIATION; NRROS GENE; PAK GENE; PCYT1A GENE; PHYSICAL EXAMINATION; PIGX GENE; PIGZ GENE; PRIORITY JOURNAL; RNF168 GENE; SCHOOL CHILD; SENP5 GENE; SLC51A GENE; SMCO1 GENE; SYNAPTIC POTENTIAL; TCTEX1D2 GENE; TFRC GENE; TM4SF19 GENE; UBXN7 GENE; WDR53 GENE; ZDHHC19 GENE; BRAIN; CHROMOSOME DISORDERS; GENETICS; INTELLECTUAL DISABILITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENOTYPE;

BRAIN; CEREBRAL PALSY; CHILD; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; PHENOTYPE;

EID: 84904430348     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36559     Document Type: Article

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