高血压与短指综合征：遗传学见解及一种新的表现形式。
Hypertension and Brachydactyly Syndrome: Genetic Insights and a Novel Presentation.
作者信息
Shahid Abdulla, Shetty Naman S, Patel Nirav, McClinchey Taylor, Arora Garima, Arora Pankaj
机构信息
Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
出版信息
JACC Case Rep. 2024 Apr 22;29(11):102343. doi: 10.1016/j.jaccas.2024.102343. eCollection 2024 Jun 5.
Phosphodiesterase 3A () gene mutations have recently been associated with hypertension and brachydactyly syndrome (HTNB). This report shows how the recent recognition of the role of the gene in HTNB facilitated the diagnosis of HTNB in a 20-year-old female who could not be diagnosed at her initial presentation at 6 years of age.
磷酸二酯酶3A（）基因突变最近被发现与高血压和短指综合征（HTNB）有关。本报告展示了最近对该基因在HTNB中作用的认识如何促成了一名20岁女性HTNB的诊断，该女性在6岁首次就诊时未能被诊断出来。
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