Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 134-139

  Willemsen, Marjolein H ^a   de Leeuw, Nicole ^a   Pfundt, Rolph ^a   de Vries, Bert B A ^a   Kleefstra, Tjitske ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

8p12p21 Deletion; Congenital heart defect; GNRH1; NKX2 6; NRG1

Indexed keywords

ARTICLE; ASTIGMATISM; CASE REPORT; CHILD; CHROMOSOME 8P; CONTROLLED STUDY; CORPUS CALLOSUM HYPOPLASIA; DEVELOPMENTAL DISORDER; EYE DISEASE; FACE DYSMORPHIA; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE LOCUS; GNRH1 GENE; GROWTH RETARDATION; HAPLOTYPE; HEART MURMUR; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERMETROPIA; HYPOGONADISM; HYPOPLASIA; HYPOSPADIAS; INTERSTITIAL CHROMOSOME DELETION; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NKX2 GENE; NKX6 GENE; NRG1 GENE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GONADOTROPIN-RELEASING HORMONE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; NERVE TISSUE PROTEINS; PHENOTYPE; PROTEIN PRECURSORS;

EID: 67349088574     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.003     Document Type: Article

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