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Article

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.

Clinical dysmorphology - 1 Oct 2011

Cosar Hese, Kahramaner Zelal, Erdemir Aydin, Turkoglu Ebru, Kanik Ali, Sutcuoglu Sumer, Onay Hüseyin, Alpman Asude, Ozkinay Ferda, Ozer Esra Arun

Abstract excerpt

Crisponi syndrome is a recently described rare autosomal recessive disorder. The main clinical features of the syndrome are neonatal onset of episodic contractions of the facial muscles with trismus and abundant salivation resembling a tetanic spasm. Herein, we report a case of 3-day-old male neonate presenting with trismus, abundant salivation, feeding difficulties, camptodactyly, and hyperthermia, which are...

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Identifiers

PMID: 21691203
DOI: 10.1097/MCD.0b013e328348836c

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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.

Related research

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Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.PMID 21691203Read ↗

Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.Semantic proximity Read ↗

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

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletionSemantic proximity Read ↗

Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.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 ↗

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

Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.Semantic proximity Read ↗

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

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

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.Semantic proximity Read ↗

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Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.Semantic proximity Read ↗

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