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

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...

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Váldodahkkit: Xianqing Li (Dahkki), Zongzhe Li (Dahkki), Peng Chen (Dahkki), Yan Wang (Dahkki), Dao Wen Wang (Dahkki), Dao Wu Wang (Dahkki)
Materiálatiipa: Girji
Almmustuhtton: BMC, 2020-07-01T00:00:00Z.
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