Thanatophoric dysplasia type 1

Common Name(s)

Thanatophoric dysplasia type 1

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. {36:Norman et al. (1992)} classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) ({28:Langer et al., 1987}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thanatophoric dysplasia type 1" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thanatophoric dysplasia type 1" returned 1 free, full-text research articles on human participants. First 3 results:

The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.
 

Author(s): Patricia M-J Lievens, Elio Liboi

Journal: J. Biol. Chem.. 2003 May;278(19):17344-9.

 

The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII). The underlying mechanisms of how the activated FGFR3 causes ...

Last Updated: 5 May 2003

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Reviews from the PubMed Database

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The terms "Thanatophoric dysplasia type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.