Different clinical and immunological presentation of ataxia-telangiectasia within the same family.
Neuropediatrics
; 39(1): 43-5, 2008 Feb.
Article
em En
| MEDLINE
| ID: mdl-18504682
ABSTRACT
Ataxia-telangiectasia is a rare multisystem neurodegenerative genetic disorder due to mutation of ATM gene. The clinical expression and the immunological abnormalities are variable and apparently not associated with the type of ATM mutations. We report on two siblings affected by A-T with different clinical and immunological presentations; in particular in one the immunological phenotype was reminiscent of hyper IgM syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia Telangiectasia
/
Proteínas Serina-Treonina Quinases
/
Proteínas de Ciclo Celular
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Proteínas Supressoras de Tumor
/
Proteínas de Ligação a DNA
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Itália