Work

Hypertension and Brachydactyly Syndrome

Year: 2024

Type: article

Abstract: Phosphodiesterase 3A (PDE3A) gene mutations have recently been associated with hypertension and brachydactyly syndrome (HTNB). This report shows how the recent recognition of the role of the PDE3A 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.

Source: JACC Case Reports

DOI: 10.1016/j.jaccas.2024.102343

Authors: Abdulla Shahid, Naman S. Shetty, Nirav Patel, Taylor McClinchey, Garima Arora, Pankaj Arora

Institutions: University of Alabama at Birmingham, Birmingham VA Medical Center

Language: English

Topic: Phosphodiesterase function and regulation

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $850