|
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 |
We report on the clinical and radiological findings in two HCH children with a FGFR3 mutation.
|
22302603 |
2012 |
|
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 |
|
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 |
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 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 |
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 |
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 |
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.
|
23726269 |
2013 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A change at nucleotide 1620 (C1620A) in the tyrosine kinase domain.
|
9842995 |
1998 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
In the present study, we analyzed the FGFR3 gene in 26 Japanese patients with ACH and 14 with HCH.
|
10890199 |
2000 |
|
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 |
UNIPROT |
In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon.
|
11055896 |
2000 |
|
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 |
The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia.
|
9450868 |
1998 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with an aberrant negative regulation, leading to the development of achondroplasia-group disorders, including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD).
|
28679403 |
2017 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The present case of hypochondroplasia and FGFR3 mutation in Asn540Lys associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy underscores the possibility of a rare syndrome.
|
24630288 |
2014 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
|
22903874 |
2012 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia.
|
7670477 |
1995 |
|
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 |
BEFREE |
Exome sequencing revealed that the girl was heterozygous for a missense mutation (c.1651A>G, p.Ile538Val) in exon 13 of FGFR3, a known mutation for hypochondroplasia, inherited from her mother.
|
28763161 |
2017 |
|
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
|
9452043 |
1998 |