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

• Auteurs principaux: Xianqing Li (Auteur), Zongzhe Li (Auteur), Peng Chen (Auteur), Yan Wang (Auteur), Dao Wen Wang (Auteur), Dao Wu Wang (Auteur)
• Format: Livre
• Publié: BMC, 2020-07-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...