Document Detail

Two cases of wiskott-Aldrich syndrome in neonates due to gene mutations.
MedLine Citation:
PMID:  23301916     Owner:  NLM     Status:  Publisher    
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia and immune deficiency. WAS gene mutations impair WAS protein function which cause WAS. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may have similar but less severe symptoms those are also caused by mutations of the same gene. We present two cases of WAS in neonates with WAS gene mutations. Early genetic diagnosis can help to the treatment and prevention this disease.
Shulian Zhang; Rong Zhang; Chao Chen; Jinqiao Sun
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-10
Journal Detail:
Title:  Fetal and pediatric pathology     Volume:  -     ISSN:  1551-3823     ISO Abbreviation:  Fetal Pediatr Pathol     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101230972     Medline TA:  Fetal Pediatr Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Neonatology, Children's Hospital of Fudan University , Shanghai , China.
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