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Article

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

European journal of medical genetics - 1 Apr 2014

Moortgat Stephanie, Benoit Valerie, Deprez Marie, Charon Anne, Maystadt Isabelle

Abstract excerpt

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by profuse sweating at cold environmental temperatures, facial dysmorphism and skeletal features. The infantile presentation of CISS, referred to as Crisponi syndrome (CS), is characterized by facial muscular contractures in response to slight tactile stimuli or during crying, by life-threatening feeding difficulties caused...

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Source

Identifiers

PMID: 24613578
DOI: 10.1016/j.ejmg.2014.02.003

Genes

CRLF1
CLCF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.PMID 24613578Read ↗

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Crisponi/CISS1 syndrome: A case series.Semantic proximity Read ↗

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

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

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.Semantic proximity Read ↗

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