Article
Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.
The Journal of clinical endocrinology and metabolism - 1 Jun 2011
Fukami Maki, Shozu Makio, Soneda Shun, Kato Fumiko, Inagaki Akemi, Takagi Hiroshi, Hanaki Keiichi, Kanzaki Susumu, Ohyama Kenji, Sano Tomoaki, Nishigaki Toshinori, Yokoya Susumu, Binder Gerhard, Horikawa Reiko, Ogata Tsutomu
Abstract excerpt
CONTEXT: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. Although cryptic inversions leading to abnormal fusions between CYP19A1 encoding aromatase and its neighboring genes have been identified in a few patients, the molecular basis remains largely unknown. OBJECTIVE: The objective of the study was to examine the genetic causes and phenotypic determinants in...
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