rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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0.840 |
GeneticVariation
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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.
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27214123 |
2016 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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0.840 |
GeneticVariation
|
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.
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25119967 |
2015 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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0.840 |
GeneticVariation
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BEFREE |
Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).
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11055896 |
2000 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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0.840 |
GeneticVariation
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UNIPROT |
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
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10360402 |
1999 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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|
0.840 |
GeneticVariation
|
BEFREE |
The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone growth that approach and overlap those observed in thanatophoric dysplasia, type I.
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10377013 |
1999 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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|
0.840 |
GeneticVariation
|
UNIPROT |
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
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10671061 |
1998 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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|
0.840 |
GeneticVariation
|
UNIPROT |
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
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9790257 |
1998 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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|
0.840 |
GeneticVariation
|
UNIPROT |
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
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8845844 |
1996 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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|
0.840 |
GeneticVariation
|
UNIPROT |
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
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8589699 |
1995 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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|
0.840 |
GeneticVariation
|
UNIPROT |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
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7773297 |
1995 |
rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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C |
0.840 |
CausalMutation
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CLINVAR |
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rs121913105
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THANATOPHORIC DYSPLASIA, TYPE I (disorder)
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T |
0.840 |
CausalMutation
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CLINVAR |
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