In:
Blood, American Society of Hematology, Vol. 99, No. 6 ( 2002-03-15), p. 2268-2269
Abstract:
Mutations of the WASP gene have been previously shown to be responsible for classical Wiskott-Aldrich syndrome, isolated X-linked thrombocytopenia, and severe, congenital X-linked neutropenia. We report herewith 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other major clinical features, and carried missense mutations of the WASP gene that allowed substantial protein expression. This observation broadens the spectrum of clinical phenotypes associated with WASP gene defects, and it indicates the need for molecular analysis in males with reduced platelet volume, regardless of the platelet number.
Type of Medium:
Online Resource
ISSN:
1528-0020
,
0006-4971
DOI:
10.1182/blood.V99.6.2268
Language:
English
Publisher:
American Society of Hematology
Publication Date:
2002
detail.hit.zdb_id:
1468538-3
detail.hit.zdb_id:
80069-7