Human MutationSingh KK, et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat. 2006;27(8):770–777. View this article via:Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M (2006) TGFBR1...
oShprintzen-Goldberg Syndrome ·other disorders presenting with dural ectasia1 oneurofibromatosis type 1 oEhlers-Danlos syndrome (may involve dorsal spine, while restricted to lumbar or sacral spine in Marfan syndrome) oLoeys-Dietz syndrome ·other disorders associated with pathogenic variants ofFBN1,...
Marfan syndrome (MFS) is a connective tissue disorder comprising multiple organ manifestations caused by a mutation in the gene FBN1 that codes for the protein, fibrillin-1 [1]. Thoracoscopic Treatment of Pneumothorax in Marfan Syndrome: Hemostatic Patch to Support Lung Resection Recovery Marfan syn...
2、arfan syndrome ,MFS) 现已证实位于 15 号染色体长臂即 15q21.2 上编码微纤维蛋白的基因即FBN1( fibrillin-1 gene)基因的缺陷或突变是该病的主要病因 已确认此基因的 201 种突变可导致Marfan 综合征的发病 Marfan 综合征(Marfan syndrome ,MFS) FBN1 基因 cDNA 全长200kb, 65 个外显子, 编码序列为10...
All cases of true Marfan syndrome appear to result from a mutation in the fibrillin-1 gene (OMIM 134797), which is located on chromosome 15. In 1976, Finney and colleagues described a giant intracranial internal carotid aneurysm in a patient with Marfan syndrome. The patient’s course was ...
Marfan syndrome is a genetic illness, generally linked to an anomaly in fibrillin type 1, which is transmitted in an autosomally dominant fashion. Its diagnosis is sometimes difficult and should always be evoked in the face of a non-atheromatous aneurysm of the ascending aorta, lead to family ...
with Marfan syndrome:A case report3.Genotype-phenotype analysis of a novel mutation of FBN1 gene in a Chinese Marfan syndrome family4.A novel TGFBR2 gene mutation of type 2 Marfan syndrome in a Chinese family5.Identification of a fibrillin-1 gene mutation in a Chinese Marfan syndrome family...
Marfan syndrome is a rare disease of the connective tissues, affecting multiple organ systems. Elevated morbidity and mortality in these patients raises the issue of costs for sickness funds and society. To date, there has been no study analysing the costs of Marfan syndrome from a sickness fund...
An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases? Hum. Mutat., 35 (2014), pp. 571-574 CrossrefView in ScopusGoogle Scholar [10] E. Crosas-Molist, et al. Vascular smooth muscle cell phenotypic changes in patients with Mar...
Limitations of the Study The present study was carried out based on a reduced sample size, since Marfan syndrome is considered rare. Nonetheless, future investigations should aim to study even larger numbers of participants. Since not all Marfan patients have a mutation in the fibrillin-1 gene, ...