Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report

• 主要な著者: Xianqing Li (著者), Zongzhe Li (著者), Peng Chen (著者), Yan Wang (著者), Dao Wen Wang (著者), Dao Wu Wang (著者)
• フォーマット: 図書
• 出版事項: BMC, 2020-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other patients still lack a genetic diagnosis. Case presentation Whole-ex...