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

• Autori principali: Xianqing Li (Autore), Zongzhe Li (Autore), Peng Chen (Autore), Yan Wang (Autore), Dao Wen Wang (Autore), Dao Wu Wang (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2020-07-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...