Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion

Gene

Volumn 498, Issue 2, 2012, Pages 308-310

  Huang, Can ^a   Yang, Yi Feng ^a   Yin, Ni ^a   Chen, Jin Lan ^a   Wang, Jian ^a   Zhang, Hong ^a   Tan, Zhi Ping ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

13q deletion syndrome; Congenital heart defect; Copy number variation; Microdeletion; Single nucleotide polymorphism array

Indexed keywords

ARTICLE; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME 13Q DELETION; CHROMOSOME BAND; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; EFNB2 GENE; ERCC5 GENE; F1D GENE; F7 GENE; FACE MALFORMATION; FEMALE; GENE; HEART DEVELOPMENT; HUMAN; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VGCNL1 GENE;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; DNA-BINDING PROTEINS; ENDONUCLEASES; EPHRIN-B2; FACE; FACTOR VII DEFICIENCY; FACTOR X DEFICIENCY; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INTELLECTUAL DISABILITY; NUCLEAR PROTEINS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84862811714     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.01.083     Document Type: Article

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