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

• Príomhchruthaitheoirí: Xianqing Li (Údar), Zongzhe Li (Údar), Peng Chen (Údar), Yan Wang (Údar), Dao Wen Wang (Údar), Dao Wu Wang (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2020-07-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: 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...