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thanatophoric dysplasia
(phenotype)
Summary
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Genetic Markers
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Most Correlated SNPs
FGFR3
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
fibroblast growth factor receptor apoptotic signaling pathway
Fibroblast growth factor receptor family
REACTOME_SIGNALING_BY_FGFR3_MUTANTS
Immunoglobulin I-set
SCHAEFFER_SOX9_TARGETS_IN_PROSTATE_DEVELOPMENT_UP
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Mouse Phenotypes - Dwarfism
OMIM - Congenital disorder
Cancer Gene Census - mutations in cancer genes
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Literature
Most Relevant Literature
Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two ca…
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality …
A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mim…
Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-re…
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysp…
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Most Relevant Clinical Trials
The Hoosier Moms Cohort
Vosoritide for Selected Genetic Causes of Short Stature
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