Severe infantile Marfan syndrome versus neonatal Marfan syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference4 articles.
1. Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome
2. Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome
3. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature
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1. A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome;Progress in Pediatric Cardiology;2024-12
2. Management of aortic disease in children with FBN1-related Marfan syndrome;European Heart Journal;2024-09-09
3. The Fbn1 gene variant governs passive ascending aortic mechanics in the mgΔlpn mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency;Frontiers in Cardiovascular Medicine;2024-03-13
4. The role of genetic testing in Marfan syndrome;Current Opinion in Cardiology;2024-02-21
5. Establishment and Validation of a Stacking Ensemble Machine Learning Model for the Diagnosis of Adolescent Marfan Syndrome Based on Genotype and Ocular Phenotype;2024
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