| Autor: |
Abdulla Shahid, BS, Naman S. Shetty, MD, Nirav Patel, MD, MSPH, Taylor McClinchey, MS, Garima Arora, MD, Pankaj Arora, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
JACC: Case Reports, Vol 29, Iss 11, Pp 102343- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2666-0849 |
| DOI: |
10.1016/j.jaccas.2024.102343 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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