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

• Κύριοι συγγραφείς: Xianqing Li (Συγγραφέας), Zongzhe Li (Συγγραφέας), Peng Chen (Συγγραφέας), Yan Wang (Συγγραφέας), Dao Wen Wang (Συγγραφέας), Dao Wu Wang (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2020-07-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...