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

• Glavni autori: Xianqing Li (Autor), Zongzhe Li (Autor), Peng Chen (Autor), Yan Wang (Autor), Dao Wen Wang (Autor), Dao Wu Wang (Autor)
• Format: Knjiga
• Izdano: BMC, 2020-07-01T00:00:00Z.
• Teme: article
• Online pristup: 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...