Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature

European Journal of Medical Genetics

Volumn 54, Issue 1, 2011, Pages 55-59

  Ballarati, Lucia ^a   Cereda, Anna ^b   Caselli, Rossella ^a   Selicorni, Angelo ^b   Recalcati, Maria P ^a   Maitz, Silvia ^b   Finelli, Palma ^a,c   Larizza, Lidia ^a,c   Giardino, Daniela ^a  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

8p23.1 deletion; Cardiac anomalies; CdLS; TNKS

Indexed keywords

OLIGONUCLEOTIDE;

ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR DISORDER; CASE REPORT; CHILD; CHROMOSOME 8P; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; DE LANGE SYNDROME; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; MALE; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; SYNDROME; TANKYRASES;

EID: 79951952181     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.10.003     Document Type: Article

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