Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

doi:10.1002/humu.22522

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Article

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Human mutation - 1 Apr 2014

Piras Roberta, Chiappe Francesca, Torraca Ilaria La, Buers Insa, Usala Gianluca, Angius Andrea, Akin Mustafa Ali, Basel-Vanagaite Lina, Benedicenti Francesco, Chiodin Elisabetta, El Assy Osama, Feingold-Zadok Michal, Guibert Javier, Kamien Benjamin, Kasapkara Ciğdem Seher, Kiliç Esra, Boduroğlu Koray, Kurtoglu Selim, Manzur Adnan Y, Onal Eray Esra, Paderi Enrica, Roche Carmen Herrero, Tümer Leyla, Unal Sezin, Utine Gülen Eda, Zanda Giovanni, Zankl Andreas, Zampino Giuseppe, Crisponi Giangiorgio, Crisponi Laura, Rutsch Frank

Abstract excerpt

Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis, and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia associated with death in most cases in the first years of life. To date, 24 distinct CRLF1 mutations have been found either in homozygosity...

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Identifiers

PMID: 24488861
DOI: 10.1002/humu.22522

Genes

CRLF1

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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.

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