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

• Ngā kaituhi matua: Xianqing Li (Author), Zongzhe Li (Author), Peng Chen (Author), Yan Wang (Author), Dao Wen Wang (Author), Dao Wu Wang (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2020-07-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: 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...