×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
Biomarker
disease
BEFREE
By reporting 11 novel CRLF1 mutations, here we expand the mutational spectrum of CRLF1 in the CS/CISS1 syndrome to a total of 35 variants and present an overview of the different molecular and clinical features of all of them.
24488861
2014
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GeneticVariation
disease
UNIPROT
By reporting 11 novel CRLF1 mutations, here we expand the mutational spectrum of CRLF1 in the CS/CISS1 syndrome to a total of 35 variants and present an overview of the different molecular and clinical features of all of them.
24488861
2014
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GeneticVariation
disease
BEFREE
A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.
24613578
2014
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GeneticVariation
disease
UNIPROT
Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.
23026229
2013
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GeneticVariation
disease
UNIPROT
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
21326283
2011
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GeneticVariation
disease
UNIPROT
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
17436251
2007
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GermlineCausalMutation
disease
ORPHANET
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
17436251
2007
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GeneticVariation
disease
UNIPROT
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
17436252
2007
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GeneticVariation
disease
UNIPROT
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.
16952376
2006
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GermlineCausalMutation
disease
ORPHANET
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.
12509788
2003
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
GeneticVariation
disease
UNIPROT
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.
12509788
2003
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
Biomarker
disease
GENOMICS_ENGLAND
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.
12509788
2003
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
CausalMutation
disease
CLINVAR
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.720
Biomarker
disease
CTD_human