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Last Updated: 01/07/2026

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Found 45 publications

Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.

Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.

Journal: Journal of clinical medicine
Published: September 26, 2025

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

Journal: Genes
Published: June 24, 2025

Anesthesia Management in a Crisponi Syndrome Patient Undergoing Tracheotomy Surgery.

Anesthesia Management in a Crisponi Syndrome Patient Undergoing Tracheotomy Surgery.

Journal: Case reports in pediatrics
Published: March 08, 2025

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Journal: Genes
Published: July 01, 2024

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Journal: Clinical genetics
Published: May 02, 2022

Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.

Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.

Journal: Clinical dysmorphology
Published: February 01, 2022

CRLF1 and CLCF1 in Development, Health and Disease.

CRLF1 and CLCF1 in Development, Health and Disease.

Journal: International journal of molecular sciences
Published: December 30, 2021

Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.

Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.

Journal: Indian journal of pediatrics
Published: December 03, 2021

Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family.

Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family.

Journal: Indian pediatrics
Published: November 24, 2020

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

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

Journal: European journal of medical genetics
Published: May 27, 2020

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

Journal: Clinical dysmorphology
Published: May 21, 2020

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line.

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line.

Journal: Stem cell research
Published: April 20, 2020
Showing 1-12 of 45

Last Updated: 01/07/2026