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

• المؤلفون الرئيسيون: Xianqing Li (مؤلف), Zongzhe Li (مؤلف), Peng Chen (مؤلف), Yan Wang (مؤلف), Dao Wen Wang (مؤلف), Dao Wu Wang (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2020-07-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...