Griscelli syndrome: Rab 27a mutation.
Indian Pediatr
;
2004 Sep; 41(9): 944-7
Article
Dans Anglais
| IMSEAR
| ID: sea-13863
ABSTRACT
An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Pronostic
/
Humains
/
Mâle
/
Nouveau-né
/
Syndrome de Chediak-Higashi
/
Piébaldisme
/
Codon non-sens
/
Protéines G rab
/
Diagnostic différentiel
/
Déficits immunitaires
Type d'étude:
Etude diagnostique
/
Étude pronostique
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2004
Type:
Article
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