Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Achondroplasia with synostosis of multiple sutures.
|
21739570 |
2011 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
|
20453470 |
2010 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
|
7670477 |
1995 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.
|
10914960 |
2000 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes.
|
20707699 |
2010 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency.
|
10751173 |
2000 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.
|
27139183 |
2016 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline specific point mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) are associated with autosomal dominant human skeletal dysplasia and craniosynostosis syndromes.
|
11526491 |
2001 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
|
25614871 |
2014 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Muenke syndrome: An international multicenter natural history study.
|
26740388 |
2016 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
A common FGFR3 gene mutation in hypochondroplasia.
|
8589686 |
1995 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.
|
19088846 |
2008 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
|
28249712 |
2017 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
|
10094188 |
1999 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
|
22045636 |
2012 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic activation of receptor tyrosine kinases in mammalian membranes.
|
18976668 |
2008 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.
|
19749790 |
2009 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Achondroplasia-hypochondroplasia complex in a newborn infant.
|
10360392 |
1999 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
|
17414280 |
2007 |
Craniosynostosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
|
23044018 |
2012 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
|
11055896 |
2000 |
Craniosynostosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
9279753 |
1997 |
Craniosynostosis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The A391E mutation enhances FGFR3 activation in the absence of ligand.
|
21536014 |
2011 |