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Hypertension and Brachydactyly Syndrome: Genetic Insights and a Novel Presentation.
Shahid, Abdulla; Shetty, Naman S; Patel, Nirav; McClinchey, Taylor; Arora, Garima; Arora, Pankaj.
Affiliation
  • Shahid A; Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Shetty NS; Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Patel N; Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • McClinchey T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Arora G; Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Arora P; Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, Alabama, USA.
JACC Case Rep ; 29(11): 102343, 2024 Jun 05.
Article in En | MEDLINE | ID: mdl-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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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: JACC Case Rep / JACC. Case reports Year: 2024 Document type: Article Affiliation country: Estados Unidos Country of publication: Países Bajos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: JACC Case Rep / JACC. Case reports Year: 2024 Document type: Article Affiliation country: Estados Unidos Country of publication: Países Bajos