TBX2 gene duplication associated with complex heart defect and skeletal malformations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2061-2066

  Radio, Francesca Clementina ^a   Bernardini, Laura ^a   Loddo, Sara ^a   Bottillo, Irene ^a   Novelli, Antonio ^a   Mingarelli, Rita ^a   Dallapiccola, Bruno ^b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

17q23.2 duplication; Gene dosage; Heart defects; Skeletal anomalies; SNP array; TBX2 gene

Indexed keywords

AORTA COARCTATION; ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME 17Q; CHROMOSOME DUPLICATION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; GENE; GENE DOSAGE; GENE DUPLICATION; GENE OVEREXPRESSION; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; LIMB DEVELOPMENT; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MITRAL VALVE STENOSIS; PATENT FORAMEN OVALE; PHALANX HYPOPLASIA; PRENATAL DEVELOPMENT; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; TBX2 GENE; TRICUSPID VALVE REGURGITATION;

ADULT; BONE AND BONES; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DUPLICATION; HEART DEFECTS, CONGENITAL; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; T-BOX DOMAIN PROTEINS;

ANIMALIA;

EID: 77955299512     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33506     Document Type: Article

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