Thanatophoric Dysplasia

Known as: Thanatophoric Short Stature, Thanatophoric Dwarfisms, Dwarfisms, Thanatophoric 
A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities… (More)
National Institutes of Health

Papers overview

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2001
2001
Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular… (More)
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Review
2000
Review
2000
Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births. More… (More)
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1998
1998
Thanatophoric dysplasia type I (TDI) is a neonatal lethal skeletal dysplasia caused by several mutations in the extracellular… (More)
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Highly Cited
1997
Highly Cited
1997
The achondroplasia class of chondrodysplasias comprises the most common genetic forms of dwarfism in humans and includes… (More)
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Highly Cited
1997
Highly Cited
1997
Dysregulation of oncogenes by translocation to the IgH locus (14q32) is a seminal event in the pathogenesis of B-cell tumours1… (More)
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1997
1997
Thanatophoric dysplasia (TD), the commonest lethal skeletal dysplasia in humans, is accounted for by recurrent mutations in the… (More)
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Highly Cited
1996
Highly Cited
1996
The longitudinal growth of the skeleton arises from the continuous process of endochondral ossification occurring at the ends of… (More)
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Highly Cited
1995
Highly Cited
1995
Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected… (More)
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1985
1985
This paper describes two fetuses with thanatophoric dysplasia (TD) diagnosed in utero by ultrasonography. The fetuses were found… (More)
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1984
1984
Neuropathologic study of eight cases of thanatophoric dysplasia (dwarfism) reveals developmental abnormalities including… (More)
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