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Type 1 Thanatophoric Dysplasia

Known as: Thanatophoric Dysplasia, Type 1 
Thanatophoric dysplasia characterized by a normally shaped skull and curved femurs. It is the most common type of thanatophoric dysplasia.
National Institutes of Health

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Thanatophoric Dysplasia

Papers overview

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2011
2011
Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis
Type 1 thanatophoric dysplasia (TD) is typically a lethal dwarfism. It is not always possible to distinguish fetuses with TD from… 
2005
2005
Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia
  • D. LiC. LiaoX. Ma
  • International journal of gynaecology and…
  • 2005
  • Corpus ID: 33525344
2000
2000
Markers for bone metabolism in a long-lived case of thanatophoric dysplasia.
We report a male patient with type 1 thanatophoric dysplasia, now eight years old, having a mutation in the FGFR3 gene… 
1996
1996
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.
Type I thanatophoric dysplasia (TD) is typically a lethal neonatal dwarfism, but a limited number of cases of type I TD cases… 
1992
1992
Thanatophoric dysplasia of the straight-bone type (type 2).
We describe two cases of type 2 thanatophoric dysplasia. Cloverleaf skull and relatively straight, shortened long bones… 
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