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
- 235 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
630
Total downloads
3,633
Total views and downloads
Submit your idea
You will be redirected to our submission process.
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
- 423 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
- 732 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
- 857 views
Manuscripts can be submitted to this Research Topic via the main journal or any other participating journal.
Submit your idea
You will be redirected to our submission process.