Article
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation.
Blood cells, molecules & diseases - 1 Aug 2013
Daza-Cajigal V, Martínez-Pomar N, Garcia-Alonso A, Heine-Suñer D, Torres S, Vega A K, Molina I J, Matamoros N
Abstract excerpt
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, eczema and various degrees of immune deficiency caused by mutations in the WAS gene, which encodes the WASP protein, the expression of which is restricted to haematopoietic cells. Mild allelic variants are associated with X-linked thrombocytopenia (XLT). Female carriers tend in general to be asymptomatic as a...
Topics
- Alleles
- Child, Preschool
- Female
- Gene Expression
- Genetic Diseases, X-Linked
- Haplotypes
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation