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

• Những tác giả chính: Xianqing Li (Tác giả), Zongzhe Li (Tác giả), Peng Chen (Tác giả), Yan Wang (Tác giả), Dao Wen Wang (Tác giả), Dao Wu Wang (Tác giả)
• Định dạng: Sách
• Được phát hành: BMC, 2020-07-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: 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...