Snijders Blok–Campeau Syndrome Associated with Pulmonary Arterial Hypertension: A Case Report
<b>Background and Clinical Significance</b>: We report on an infant with Snijders Blok–Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. <b>Case Presentation</b>: A <i>DDX3X</i> mutation encoding for RNA helicase wa...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI AG
2025-04-01
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| Col·lecció: | Reports |
| Matèries: | |
| Accés en línia: | https://www.mdpi.com/2571-841X/8/2/47 |
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