|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular analyses revealed a C to G mutation at nucleotide 1659 of the fibroblast growth factor receptor 3 (FGFR3) gene, a common mutation in hypochondroplasia.
|
14755409 |
2004 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypochondroplasia (HCH), the mildest form of this group of short-limbed dwarfism disorders, results in approximately 60% of cases from a mutation in the intracellular FGFR3-tyrosine kinase domain.
|
11015576 |
2000 |
|
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
The genotyping of a three-generation family showed no recombinants between the hypochondroplasia phenotype and three highly polymorphic markers flanking the FGFR3 gene.
|
8589686 |
1995 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, AN was reported in HCH with p.K650T mutation in FGFR3, and to date, there are only three reports, comprising 18 cases, describing AN harboring this specific gene mutation.
|
29068064 |
2018 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation, c.1052C>T, in FGFR3 gene was identified in a large Chinese family with HCH.
|
30681580 |
2019 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this retrospective study, we assessed neurological and neuroimaging aspects of 13 FGFR3 (N540K) mutation verified HCH patients in Finland.
|
23165795 |
2012 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.
|
29080836 |
2018 |
|
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Prenatal diagnosis of abnormal ultrasound findings suspicious of ACH should include a differential diagnosis of HCH by molecular analysis of FGFR3.
|
24411048 |
2013 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
|
31048079 |
2020 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation.
|
30335613 |
2018 |
|
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
To establish radiologic criteria and scoring system for identifying neonates with fibroblast growth factor receptor 3 (FGFR3)-associated hypochondroplasia.
|
26867606 |
2016 |
|
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
A variety of genes have been reported for SS, among which FGFR-3 was the main gene in achondroplasia and hypochondroplasia.
|
31177591 |
2019 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for several autosomal dominant craniosynostosis syndromes and chondrodysplasias i.e. hypochondroplasia, achondroplasia, SADDAN and thanatophoric dysplasia--a neonatal lethal dwarfism syndrome.
|
12461689 |
2002 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene.
|
10360392 |
1999 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Early development of extensive acanthosis nigricans (AN) is a key feature in some patients who have hypochondroplasia (HCH) in association with FGFR3 mutations.
|
30762251 |
2019 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia.
|
10215410 |
1998 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The majority of the mutations identified are identical to germline mutations in FGFR2 and FGFR3 that cause craniosynostosis and hypochondroplasia syndromes and result in both ligand-independent and ligand-dependent receptor activation.
|
19243295 |
2009 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been found in persons with achondroplasia, thanatophoric dysplasia, and hypochondroplasia.
|
9300204 |
1997 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study we examined the FGFR3 gene for the previously described hypochondroplasia mutations and the phenotype of 23 probands with clinically and radiologically diagnosed hypochondroplasia.
|
11071087 |
2000 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
|
23149434 |
2012 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation.
|
23649205 |
2013 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of human fibroblast growth factor receptor 3 (FGFR3) result in several skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia.
|
9887329 |
1999 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms of short stature, of which the least severe phenotype is hypochondroplasia, mainly characterized by disproportionate short stature.
|
25777271 |
2015 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we performed mutational analysis of the coding region of the SHOX gene in five DCO and 18 HCH patients, all of whom tested negative for the known HCH-associated FGFR3 mutations.
|
11030412 |
2000 |