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

• Главные авторы: Xianqing Li (Автор), Zongzhe Li (Автор), Peng Chen (Автор), Yan Wang (Автор), Dao Wen Wang (Автор), Dao Wu Wang (Автор)
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• Опубликовано: BMC, 2020-07-01T00:00:00Z.
• Предметы: article
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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...