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

• প্রধান লেখক: Xianqing Li (লেখক), Zongzhe Li (লেখক), Peng Chen (লেখক), Yan Wang (লেখক), Dao Wen Wang (লেখক), Dao Wu Wang (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2020-07-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...