sábado, 11 de julio de 2020

Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report | BMC Medical Genetics | Full Text

Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report | BMC Medical Genetics | Full Text

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...
Authors:Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang and Dao Wu Wang
Citation:BMC Medical Genetics 2020 21:144
Content type:Case report
 
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