Crisponi Syndrome

Common Name(s)

Crisponi 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 "Crisponi Syndrome" 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 "Crisponi Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
 

Author(s): Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gudrun Nurnberg, Gianluca Usala, Manuela Uda, Marco Masala, Wolfgang Hohne, Christian Becker, Mara Marongiu, Francesca Chiappe, Robert Kleta, Anita Rauch, Bernd Wollnik, Friedrich Strasser, Thomas Reese, Cornelis Jakobs, Gerd Kurlemann, Antonio Cao, Peter Nurnberg, Frank Rutsch

Journal: Am. J. Hum. Genet.. 2007 May;80(5):971-81.

 

Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed ...

Last Updated: 16 Apr 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Crisponi Syndrome" 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.