|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia.
|
22137367 |
2012 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.
|
21225389 |
2011 |
|
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 |
Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
|
20034074 |
2010 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders.
|
19215249 |
2009 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the FGFR3 gene lead to craniosynostosis and multiple types of skeletal dysplasia with varying degrees of severity: thanatophoric dysplasia (TD), achondroplasia and hypochondroplasia.
|
19898608 |
2009 |
|
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 |
This is the first report of a large pedigree with the clinical phenotype of HCH plus AN due to a FGFR3 mutation, p.Lys650Thr.
|
18583390 |
2008 |
|
Hypochondroplasia (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
|
18000976 |
2007 |
|
Hypochondroplasia (disorder)
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
FGFR3 is expressed in the brain during development and plays a role in hippocampal formation, and FGFR3 mutations could cause cerebral malformations in hypochondroplasia.
|
17621485 |
2007 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the Fibroblast Growth Factor Receptor 3 (FGFR3) gene have been implicated in a series of skeletal dysplasias including hypochondroplasia, achondroplasia and thanatophoric dysplasia.
|
17320202 |
2007 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FGFR3 result in skeletal dysplasias of variable severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II (TDII), and severe but survivable phenotypic effects in severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN).
|
17561467 |
2007 |
|
Hypochondroplasia (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
16912704 |
2006 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis carried out retrospectively revealed that both fetuses were heterozygous for the C1620A mutation resulting in N540K substitution in FGFR3, the most common mutation in HCH.
|
16575888 |
2006 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that the spectrum of FGFR3 mutations causing short-limb dwarfism is wider than originally recognised and emphasise the requirement for complete screening of the FGFR3 gene if appropriate genetic counselling is to be offered to patients with HCH or ACH lacking the most common mutations and their families.
|
16912704 |
2006 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed two germline mutations, a seven base-pair deletion in exon 12 (G70313-703129del) in one allele of the retinoblastoma gene (RB1) and the N540K (C1620C > A) mutation in one allele of the fibroblast growth factor 3 (FGFR3) gene, a frequent mutation in hypochondroplasia.
|
16020314 |
2005 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We suggest FGFR3 mutations might cause cerebral malformations in hypochondroplasia as well as in thanatophoric dysplasia.
|
16222682 |
2005 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In an attempt to clarify genotype-phenotype correlation in ACH and HCH, we investigated the presence of the previously identified mutations of FGFR3 in 26 patients with ACH- or HCH-mimicking features and compared clinical and radiographic findings between the two groups.
|
16355813 |
2005 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test.
|
15345118 |
2004 |
|
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) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene.
|
12794698 |
2003 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The effects of recombinant human growth hormone (rhGH) treatment for three years were compared in patients with achondroplasia (ACH) and hypochondroplasia (HCH), whose diagnosis had been confirmed by DNA analysis of the fibroblast growth factor receptor 3 gene.
|
12733711 |
2003 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
|
12707965 |
2003 |
|
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 |
We report two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively.
|
11754059 |
2001 |