A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

European Journal of Human Genetics

Volumn 20, Issue 3, 2012, Pages 348-351

  White, Stefan ^a,b   Hewitt, Jacqueline ^a,c   Turbitt, Erin ^a   Van Der Zwan, Yvonne ^d   Hersmus, Remko ^d   Drop, Stenvert ^d   Koopman, Peter ^e   Harley, Vincent ^b   Cools, Martine ^f   Looijenga, Leendert ^d   Sinclair, Andrew ^a,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF QUEENSLAND   (Australia)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

copy number; disorders of sex development; gonad; microarrays; WWOX

Indexed keywords

COMPLEMENTARY DNA; FOLLITROPIN; GENOMIC DNA; MESSENGER RNA; OCTAMER TRANSCRIPTION FACTOR 4; TESTOSTERONE; TRANSCRIPTION FACTOR SOX9;

AMBIGUOUS GENITALIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; DNA DETERMINATION; DNA MICROARRAY; DNA SCREENING; DNA SEQUENCE; EXON; GENE; GENE DUPLICATION; GENE EXPRESSION; GENE PROBE; GENETIC ANALYSIS; GENETIC CODE; GERM CELL TUMOR; GONAD; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INHERITANCE; KARYOTYPE; LYMPHOCYTE; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; NUCLEOTIDE SEQUENCE; OVARY; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SERTOLI CELL; SEX DIFFERENTIATION DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; UROGENITAL TRACT RADIOGRAPHY; WWOX GENE;

46, XY DISORDERS OF SEX DEVELOPMENT; BASE SEQUENCE; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; HUMANS; INFANT, NEWBORN; MALE; OXIDOREDUCTASES; SEQUENCE DELETION; TUMOR SUPPRESSOR PROTEINS;

EID: 84857192381     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.204     Document Type: Article

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