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

• Päätekijät: Xianqing Li (Tekijä), Zongzhe Li (Tekijä), Peng Chen (Tekijä), Yan Wang (Tekijä), Dao Wen Wang (Tekijä), Dao Wu Wang (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2020-07-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...