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

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...

Source: BMC Medical Genetics - July 6, 2020 Category: Genetics & Stem Cells Authors: Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang and Dao Wu Wang Tags: Case report Source Type: research