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

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 homozygosity...

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Bibliographic Details
Published in:	American journal of human genetics Vol. 80; no. 5; p. 971
Main Authors:	Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nurnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Hohne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nurnberg, Peter, Rutsch, Frank
Format:	Journal Article
Language:	English
Published:	United States 01.05.2007
Subjects:	Abnormalities, Multiple - genetics Adolescent Alleles Amino Acid Sequence Base Sequence Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 19 - genetics Cold Temperature - adverse effects DNA - genetics Female Haplotypes Humans Infant Infant, Newborn Male Models, Molecular Molecular Sequence Data Muscle Contraction - genetics Mutation Pedigree Phenotype Receptors, Cytokine - chemistry Receptors, Cytokine - genetics Sequence Homology, Amino Acid Sweating - genetics Syndrome
ISSN:	0002-9297
Online Access:	Get more information
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