790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism

European Journal of Medical Genetics

Volumn 55, Issue 3, 2012, Pages 222-224

  Belligni, Elga Fabia ^a   Di Gregorio, Eleonora ^b,c   Biamino, Elisa ^a   Calcia, Alessandro ^b   Molinatto, Cristina ^b   Talarico, Flavia ^c   Ferrero, Giovanni Battista ^a   Brusco, Alfredo ^b,c   Silengo, Margherita Cirillo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c AOU San Giovanni Battista   (Italy)

Author keywords

Afebrile seizures; Diabetes; Intellectual disability; Metabolic syndrome; Microduplication 17p13.1

Indexed keywords

EPHRIN B3; EXCITATORY AMINO ACID TRANSPORTER 2; MEMBRANE PROTEIN; NEUREXIN; NEUROLIGIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; GENE REARRANGEMENT; HUMAN; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; METABOLIC SYNDROME X; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PHENOTYPE; SEIZURE; CHROMOSOME 17; GENETICS; MOSAICISM; TRISOMY;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 17; DIABETES MELLITUS, TYPE 2; HUMANS; HYPOTHYROIDISM; INTELLECTUAL DISABILITY; MALE; METABOLIC SYNDROME X; MOSAICISM; SEIZURES; TRISOMY;

EID: 84858862046     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.01.016     Document Type: Article

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