Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2018-0266
Abstract: Abstract Background Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by CYP19A1 overexpression. Clinical manifestations of AEXS include pre- or peri-pubertal gynecomastia, advanced bone age and compromised adult height. Case presentation Here… read more here.
Keywords: novel duplication; duplication; excess syndrome; boy ... See more keywords