Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.
Genet Couns
; 24(2): 161-6, 2013.
Article
en En
| MEDLINE
| ID: mdl-24032286
ABSTRACT
SUMMARY:
Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Recently, it has been demonstrated that CRLF1 (cytokine receptor-like factor 1) gene mutation is associated with CS. Here we report a case of CS with a new mutation in the CRLF1 gene associated with moderate clinical phenotype.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trismo
/
Deformidades Congénitas de la Mano
/
Receptores de Citocinas
/
Fiebre
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Turquía