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Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia

BackgroundFBN1 gene mutation-associated geleophysic dysplasia (GD) leads to the formation of complex and refractory pulmonary hypertension (PH) through a multifactorial combination of precapillary factors, postcapillary factors, and respiratory pathology. However, clinical experience regarding the d...

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Hoofdauteurs: Ze-yang Chen, Yuan Cao, Jie Yang, Xue-hua He, Li-ping Liu, Yong-hua Yuan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2025-07-01
Reeks:Frontiers in Pediatrics
Onderwerpen:
FBN1
geleophysic dysplasia
mitral valve lesion
pulmonary hypertension
timing of surgery 1
Online toegang:https://www.frontiersin.org/articles/10.3389/fped.2025.1642390/full
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