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

• Asıl Yazarlar: Xianqing Li (Yazar), Zongzhe Li (Yazar), Peng Chen (Yazar), Yan Wang (Yazar), Dao Wen Wang (Yazar), Dao Wu Wang (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-07-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...