Endocrine dysfunctions in children with Williams-Beuren syndrome

• 主要な著者: Yoon-Myung Kim (著者), Ja Hyang Cho (著者), Eungu Kang (著者), Gu-Hwan Kim (著者), Eul-Ju Seo (著者), Beom Hee Lee (著者), Jin-Ho Choi (著者), Han-Wook Yoo (著者)
• フォーマット: 図書
• 出版事項: Korean Society of Pediatric Endocrinology, 2016-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

PurposeWilliams-Beuren syndrome (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global cognitive impairment, dysmorphic facial features, and supravalvular aortic stenosis. Endocrine dysfunctions have been reported in patients with WBS. This study was perfo...