Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1-Reference-Cited by-同舟云学术

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

Published:2007-05 Issue:5 Volume:80 Page:971-981
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

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.

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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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2. Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome;Genes;2024-08-23

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4. A Modern Interpretation of Cold-Heat Pattern in Traditional Medicine with a Focus on Thermo-Regulation;Perspectives on Integrative Medicine;2024-02-29

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