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

• Main Authors: Xianqing Li (Author), Zongzhe Li (Author), Peng Chen (Author), Yan Wang (Author), Dao Wen Wang (Author), Dao Wu Wang (Author)
• Formato: Libro
• Publicado: BMC, 2020-07-01T00:00:00Z.
• Subjects: article
• Acceso en liña: 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...