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  • Title: Hypertension and Brachydactyly Syndrome: Genetic Insights and a Novel Presentation.
    Author: Shahid A, Shetty NS, Patel N, McClinchey T, Arora G, Arora P.
    Journal: JACC Case Rep; 2024 Jun 05; 29(11):102343. PubMed ID: 38689596.
    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.
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