Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference32 articles.

1. Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?;Crisponi;Am J Med Genet,1996

2. Crisponi syndrome: report of a further patient;Accorsi;Am J Med Genet A,2003

3. Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome;Nannenberg;Am J Med Genet A,2005

4. Low GABA concentrations in CSF in patients with Crisponi syndrome: a sign of poor prognosis?;Rutsch;Eur J Hum Gen Suppl,2006

5. Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2;Cormier-Daire;Am J Med Genet,1998

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