Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development

PLoS ONE

Volumn 8, Issue 7, 2013, Pages

  Igarashi, Maki ^a   Dung, Vu Chi ^b   Suzuki, Erina ^a   Ida, Shinobu ^c   Nakacho, Mariko ^c   Nakabayashi, Kazuhiko ^a   Mizuno, Kentaro ^d   Hayashi, Yutaro ^d   Kohri, Kenjiro ^d   Kojima, Yoshiyuki ^d,e   Ogata, Tsutomu ^a,f   Fukami, Maki ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NATIONAL HOSPITAL OF PEDIATRICS   (Viet Nam)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^e FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^f HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AMBIGUOUS GENITALIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 9P; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DMRT1 GENE; GENE; GENE CLUSTER; GENE DELETION; GENE REARRANGEMENT; GONADAL DYSGENESIS; GONADECTOMY; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HOXD GENE; HUMAN; HUMAN TISSUE; HYPOGONADISM; HYPOSPADIAS; INFANT; MALE; MENTAL DEFICIENCY; MICROPENIS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SEX DIFFERENTIATION DISORDER; SHORT STATURE;

46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE REARRANGEMENT; GENOME, HUMAN; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; SEQUENCE DELETION;

EID: 84879949667     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0068194     Document Type: Article

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