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Article

Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.

Dermatology (Basel, Switzerland) - 1 Jan 2013

González Fernández D, Lázaro Pérez M, Santillán Garzón S, Alvarez Martínez V, Encinas Madrazo A, Fernández Toral J, Pérez Oliva N

Abstract excerpt

INTRODUCTION: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene, characterized by profuse sweating when the ambient temperature is below 22°C and morphological alterations. CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous...

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Identifiers

PMID: 24008591
DOI: 10.1159/000351880

Genes

CRLF1

Variants

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Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.PMID 24008591Read ↗

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

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Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.Semantic proximity Read ↗

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Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.Semantic proximity Read ↗

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.Semantic proximity Read ↗

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