Genomic basis of aromatase excess syndrome: Recombination- and replication-Mediated rearrangements leading to CYP19A1 overexpression

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 12, 2013, Pages

  Fukami, Maki ^a   Tsuchiya, Takayoshi ^a,b   Vollbach, Heike ^c   Brown, Kristy A ^d   Abe, Shuji ^e   Ohtsu, Shigeyuki ^f   Wabitsch, Martin ^c   Burger, Henry ^d   Simpson, Evan R ^d   Umezawa, Akihiro ^a   Shihara, Daizou ^a   Nakabayashi, Kazuhiko ^a   Bulun, Serdar E ^g   Shozu, Makio ^h   Ogata, Tsutomu ^a,i  

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

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

^c UNIVERSITY HOSPITAL ULM   (Germany)

^d MONASH MEDICAL CENTRE   (Australia)

^e HAKODATE GORYOUKAKU HOSPITAL   (Japan)

^f KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g NORTHWESTERN UNIVERSITY   (United States)

^h CHIBA UNIVERSITY   (Japan)

ⁱ HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATASE;

ADOLESCENT; ADULT; AROMATASE EXCESS SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE AGE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; CYP19A1 GENE; DISEASE SEVERITY; DNA END JOINING REPAIR; DNA FLANKING REGION; DNA REPLICATION TIMING; DNA SEQUENCE; EXON; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENE REPLICATION; GENOMICS; GYNECOMASTIA; HOMOLOGOUS RECOMBINATION; HUMAN; MALE; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; YOUNG ADULT;

46, XX DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADULT; AROMATASE; CHILD; DNA REPLICATION; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE FUSION; GENE REARRANGEMENT; GYNECOMASTIA; HUMANS; INFERTILITY, MALE; MALE; METABOLISM, INBORN ERRORS; PROMOTER REGIONS, GENETIC; RECOMBINATION, GENETIC; SEVERITY OF ILLNESS INDEX;

EID: 84889861223     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2520     Document Type: Article

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