Causes
Marfan Lipodystrophy Syndrome | Hereditary Ocular Diseases
![PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/8aaf29ea06bc2c695e1c09bb04a97aa54bcc2921/3-Figure1-1.png "PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar")
PDF] Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. | Semantic Scholar
Anti-TGFβ (Transforming Growth Factor β) Therapy With Betaglycan-Derived P144 Peptide Gene Delivery Prevents the Formation of Aortic Aneurysm in a Mouse Model of Marfan Syndrome | Arteriosclerosis, Thrombosis, and Vascular Biology
Heterozygous TGFBR2 mutations in Marfan syndrome | Nature Genetics
Schematic view of Marfan syndrome pathophysiology. Mutation in FBN1... | Download Scientific Diagram
Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome
The molecular genetics of Marfan syndrome and related microfibrillopathies | Journal of Medical Genetics
Marfan Syndrome | cdc.gov
Professor Penny Handford Research Group
Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts | Scientific Reports
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome | Journal of Medical Genetics
Autosomal Dominant: Marfan Syndrome
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene | Molecular Cytogenetics | Full Text
Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos: Molecular Therapy
![Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]](https://dfzljdn9uc3pi.cloudfront.net/2018/5927/1/fig-1-2x.jpg "Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]")
Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome [PeerJ]
![PDF] A recurring FBN1 gene mutation in neonatal Marfan syndrome. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/3726738b302ecfda68b27d16448806987a05ab94/3-Figure3-1.png "PDF] A recurring FBN1 gene mutation in neonatal Marfan syndrome. | Semantic Scholar")
PDF] A recurring FBN1 gene mutation in neonatal Marfan syndrome. | Semantic Scholar
Marfan syndrome: MedlinePlus Genetics
Marfan Syndrome - Causes | NHLBI, NIH
DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome | Scientific Reports
CDH in a family with Marfan syndrome. (A) Pedigree showing the... | Download Scientific Diagram
Marfan syndrome | DermNet
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
Marfan's Syndrome - an overview | ScienceDirect Topics
A novel FBN1 mutation causes autosomal dominant Marfan syndrome
