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

• मुख्य लेखकों: Xianqing Li (लेखक), Zongzhe Li (लेखक), Peng Chen (लेखक), Yan Wang (लेखक), Dao Wen Wang (लेखक), Dao Wu Wang (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...