CASE REPORT
Published on 16 Jul 2025
Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia
doi 10.3389/fped.2025.1642390
- 856 views
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Advances in molecular genetics of Marfan syndrome and related disorders
Advances in molecular genetics of Marfan syndrome and related disorders
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Articles
CASE REPORT
Published on 02 Jul 2025
Case Report: FBN1 mutation screening in South African patients with Marfan syndrome
doi 10.3389/fgene.2025.1612411
- 1,437 views
ORIGINAL RESEARCH
Published on 19 Mar 2025
Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient
doi 10.3389/fgene.2025.1564824
- 1,226 views
CASE REPORT
Published on 07 Mar 2025
A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report
doi 10.3389/fped.2025.1549504
- 1,512 views
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