THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus.
|
29542187 |
2019 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Live-born infants with TDI are exceedingly rare, and we hereby report a newborn with a c.2419 T > C mutation in FGFR3, emphasizing phenotype with clinical characteristics and ultrasonographic and X-ray findings, to raise awareness about the heterogeneous patterns of TD.
|
31476288 |
2019 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor 3 (FGFR3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD).
|
29040558 |
2018 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.
|
29360984 |
2018 |
THANATOPHORIC DYSPLASIA, TYPE I (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 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD).
|
27987249 |
2017 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A second-trimester fetus with a heterozygous c.2419T>G mutation in FGFR3 may present characteristic ultrasound and X-ray findings of TD1.
|
28254233 |
2017 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Because FGFR3 is the main modulator of bone maturation, typical features of TD include short extremities, curved femur, clover-leaf skull, small narrow chest, and platyspondyly.
|
28249712 |
2017 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe the first case of protein-losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene.
|
27214123 |
2016 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, no insertions or deletions in FGFR3 have been reported to cause thanatophoric dysplasia types 1 or 2; therefore, this represents the first report to describe such a mutation.
|
27028100 |
2016 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations.
|
27450648 |
2016 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN.
|
25119967 |
2015 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a female case of thanatophoric dysplasia type I (TD1) with FGFR3 mutation.
|
23551494 |
2013 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.
|
24324705 |
2013 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thanatophoric dysplasia (TD) and hypochondroplasia are both caused by FGFR3 (fibroblast growth factor receptor 3) gene mutations.
|
23649205 |
2013 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.
|
23014564 |
2012 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Achondroplasia (ACH) and thanatophoric dysplasia (TD) are caused by gain-of-function mutations of fibroblast growth factor receptor 3 (FGFR3) and they are the most common forms of dwarfism and lethal dwarfism, respectively.
|
22634226 |
2012 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade.
|
21264819 |
2011 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in FGFR3 cause the most common forms of human dwarfism: achondroplasia and thanatophoric dysplasia.
|
20922792 |
2011 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Both types of TD are caused by mutations in different functional domains of the FGFR3 gene.
|
21204232 |
2011 |
THANATOPHORIC DYSPLASIA, TYPE I (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 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activating mutations in FGFR3, including thanatophoric dysplasia, severe achondroplasia (ACH) with developmental delay and AN (SADDAN syndrome), and Crouzon syndrome with AN.
|
19622626 |
2009 |
THANATOPHORIC DYSPLASIA, TYPE I (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 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most common human skeletal dysplasias.
|
18923003 |
2009 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS.
|
19855393 |
2009 |