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

• Prif Awduron: Xianqing Li (Awdur), Zongzhe Li (Awdur), Peng Chen (Awdur), Yan Wang (Awdur), Dao Wen Wang (Awdur), Dao Wu Wang (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2020-07-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...