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

Gregorio Serra, Giovanni Corsello, Ettore Piro, Ivana Persico, Ingrid Anne Mandy Schierz, Vincenzo Antona

Risultato della ricerca: Articlepeer review

2 Citazioni (Scopus)

Abstract

Crisponi syndrome/CISS1, is an autosomal recessiveciliary neurotrophic factor receptor (CNTFR)-relatedgenodermatosis caused in 95% of cases by mutations inCRLF1 on chromosome 19p13. The CNTFR pathwayis important for CNS development. Crisponi syndrome/CISS1 can be suspected in the presence of the followingclinical triad: camptodactyly with fisted hands, intermittenthyperthermia and muscular contractions with feedingdifficulties.
Lingua originaleEnglish
pagine (da-a)141-143
Numero di pagine3
RivistaClinical Dysmorphology
Volume29
Stato di pubblicazionePublished - 2020

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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