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

• Үндсэн зохиолчид: Xianqing Li (Зохиогч), Zongzhe Li (Зохиогч), Peng Chen (Зохиогч), Yan Wang (Зохиогч), Dao Wen Wang (Зохиогч), Dao Wu Wang (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2020-07-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...