Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome
Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with dif...
Saved in:
Main Authors: | Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2018-01-01
|
Series: | International Journal of Genomics |
Online Access: | http://dx.doi.org/10.1155/2018/1246516 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature
by: Bingzi Dong, et al.
Published: (2022-01-01) -
Novel variant of FBN2 in a patient with congenital contractual arachnodactyly
by: Mina Nakama, et al.
Published: (2024-02-01) -
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy
by: Xike Wang, et al.
Published: (2018-01-01) -
Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype
by: Li-jun Xie, et al.
Published: (2021-01-01) -
External musculoskeletal markers of marfan syndrome
by: Thirunavukkarasu Arun Babu
Published: (2022-01-01)