5p13 microduplication syndrome: A new case and better clinical definition of the syndrome

European Journal of Medical Genetics

Volumn 56, Issue 1, 2013, Pages 54-58

  Novara, Francesca ^a   Alfei, Enrico ^b   D'Arrigo, Stefano ^b   Pantaleoni, Chiara ^b   Beri, Silvana ^c   Achille, Valentina ^a   Sciacca, Francesca L ^b   Giorda, Roberto ^c   Zuffardi, Orsetta ^a,d   Ciccone, Roberto ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c SCIENTIFIC INSTITUTE   (Italy)

^d C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

Author keywords

5p13 microduplication syndrome; Array CGH; NIPBL

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME MICRODUPLICATION 5P13 SYNDROME; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FINGER MALFORMATION; FOOT MALFORMATION; GENE; GENE DOSAGE; GENOTYPE PHENOTYPE CORRELATION; HAND MALFORMATION; HUMAN; KARYOTYPING; LEARNING DISORDER; NIPBL GENE; PHENOTYPE; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HUMANS; PHENOTYPE; PROTEINS; SYNDROME;

EID: 84871700260     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.10.002     Document Type: Article

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