Temtamy preaxial brachydactyly syndrome

Common Name(s)

Temtamy preaxial brachydactyly syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Temtamy preaxial brachydactyly syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Temtamy preaxial brachydactyly syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
 

Author(s): Yun Li, Kathrin Laue, Samia Temtamy, Mona Aglan, L Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma L Wakeling, Oliver W Quarrell, Ingelore Baessmann, Matthew B Lanktree, Mustafa Yilmaz, Robert A Hegele, Khalda Amr, Klaus W May, Peter Nürnberg, A Kemal Topaloglu, Matthias Hammerschmidt, Bernd Wollnik

Journal: Am. J. Hum. Genet.. 2010 Dec;87(6):757-67.

 

Altered Bone Morphogenetic Protein (BMP) signaling leads to multiple developmental defects, including brachydactyly and deafness. Here we identify chondroitin synthase 1 (CHSY1) as a potential mediator of BMP effects. We show that loss of human CHSY1 function causes autosomal-recessive ...

Last Updated: 7 Dec 2010

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Reviews from the PubMed Database

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The terms "Temtamy preaxial brachydactyly syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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