TY  - GEN
AU  - Fukami,Maki
AU  - Tsuchiya,Takayoshi
AU  - Vollbach,Heike
AU  - Brown,Kristy A
AU  - Abe,Shuji
AU  - Ohtsu,Shigeyuki
AU  - Wabitsch,Martin
AU  - Burger,Henry
AU  - Simpson,Evan R
AU  - Umezawa,Akihiro
AU  - Shihara,Daizou
AU  - Nakabayashi,Kazuhiko
AU  - Bulun,Serdar E
AU  - Shozu,Makio
AU  - Ogata,Tsutomu
TI  - Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression
SN  - 1945-7197
PY  - 2014///0414
KW  - 46, XX Disorders of Sex Development
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Aromatase
KW  - biosynthesis
KW  - Child
KW  - DNA Replication
KW  - Gene Deletion
KW  - Gene Dosage
KW  - Gene Duplication
KW  - Gene Fusion
KW  - Gene Rearrangement
KW  - Gynecomastia
KW  - Humans
KW  - Infertility, Male
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - Promoter Regions, Genetic
KW  - Recombination, Genetic
KW  - Severity of Illness Index
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1210/jc.2013-2520
ER  -