Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference6 articles.
1. Crisponi syndrome: Report of a further patient;Accorsi;Am J Med Genet Part A,2003
2. Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome?;Crisponi;Am J Med Genet,1996
3. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1;Crisponi;Am J Hum Genet,2007
4. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes;Dagoneau;Am J Hum Genet,2007
5. Central apneas in a case of Crisponi syndrome;Della Marca;Sleep Med,2007
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1. Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome;Indian Journal of Pediatrics;2022-08-19
2. Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family;Indian Pediatrics;2020-11
3. Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts;Clinical Genetics;2019-09-16
4. A case report of Crisponi/cold-induced sweating syndrome 1 in a Saudi family;Journal of Clinical Neonatology;2018
5. A new case series of Crisponi syndrome in a Turkish family and review of the literature;Clinical Dysmorphology;2017-04
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