Research graph
References from Case Report: Late-onset liver cirrhosis in an elderly patient with FBN1-related Geleophysic Dysplasia. Local targets link to admitted publications; unresolved targets remain external evidence.
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
10.1136/jmg.40.1.34 · 2003 · External reference
From tall to short: the role of TGFbeta signaling in growth and its disorders
10.1002/ajmg.c.31337 · 2012 · External reference
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
10.1016/j.ajhg.2011.05.012 · 2011 · External reference
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
10.1371/journal.pone.0048634 · 2012 · External reference
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders
10.1016/j.gene.2016.07.033 · 2016 · External reference
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
10.1002/mgg3.844 · 2019 · External reference
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases
10.1038/s41436-020-00994-x · 2021 · External reference
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia
10.1016/j.ejmg.2017.11.018 · 2018 · External reference
The clinical cases of geleophysic dysplasia: One gene, different phenotypes
10.1155/2018/8212417 · 2018 · External reference
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
10.1136/jmg.2010.087544 · 2011 · External reference
Geleophysic dwarfism--a "focal" mucopolysaccharidosis
10.1016/s0140-6736(71)92073-3 · 1971 · External reference
Clinical and ultrastructural findings in three patients with geleophysic dysplasia
10.1002/(sici)1096-8628(19960503)63:1<50::aid-ajmg11>3.0.co;2-t · 1996 · External reference
Natural history of cardiac involvement in geleophysic dysplasia
10.1002/ajmg.a.30450 · 2005 · External reference
Case report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia
10.3389/fped.2025.1642390 · 2025 · External reference
TGF-beta in progression of liver disease
10.1007/s00441-011-1246-y · 2012 · External reference
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome
10.1111/j.1399-0004.2007.00845.x · 2007 · External reference
