Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency - Case report and review of the literature

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 732-736

  Erez, A ^a   Li, J ^a   Geraghty, M T ^b   Ben Shachar, S ^a   Cooper, M L ^a   Mensing, D E ^a   Vonalt, K D ^a   Ou, Z ^a   Pursley, A N ^a   Chinault, A C ^a   Patel, A ^a   Cheung, S W ^a   Sahoo, T ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Array CGH; Chromosome 11; Dopamine beta hydroxylase (DBH) deficiency; Iris coloboma; Mosaic

Indexed keywords

DOPAMINE BETA MONOOXYGENASE; TRANSCRIPTION FACTOR PAX6; WT1 PROTEIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME LOSS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; DOPAMINE BETA MONOOXYGENASE DEFICIENCY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; IRIS COLOBOMA; KARYOTYPE 46,XX; MOSAICISM; PRIORITY JOURNAL; WAGR SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; DOPAMINE BETA-HYDROXYLASE; EYE PROTEINS; FEMALE; GENE DOSAGE; GENES, WILMS TUMOR; HOMEODOMAIN PROTEINS; HUMANS; HYPOTENSION, ORTHOSTATIC; IN SITU HYBRIDIZATION, FLUORESCENCE; MOSAICISM; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS;

EID: 77649208359     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33269     Document Type: Article

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