The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indi
Clinical and Molecular Characteristics of 35 Chinese Children with Wiskott–Aldrich Syndrome
✍ Scribed by Pamela P. W. Lee; Tong-Xin Chen; Li-Ping Jiang; Jing Chen; Koon-wing Chan; Tze-Leung Lee; Marco H. K. Ho; Shao-Han Nong; Yin Yang; Yong-Jun Fang; Qiang Li; Xiao-Chun Wang; Xi-Qiang Yang; Yu-Lung Lau
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 273 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0271-9142
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
An extended, highly consanguineous Israeli Bedouin family with at least 20 individuals exhibiting a unique phenotype of oculocutaneous albinism (OCA) was identified. All known OCA genes were excluded in this family. Electron microscopic analysis of platelets revealed absence of dense bodies, suggest
Of 2947 children with acute lymphocytic leukemia (ALL), treated during three consecutive studies of the Pediatric Oncology Group (1974-1986), 52 (1.8%) had Down's Syndrome (DS). Comparison of clinical and laboratory characteristics showed no significant differences in leukocyte count, racial distrib