A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia.

Arwani, Mais; Lee, Daniel; Haddad, Abdullah; Mewawalla, Prerna

Arwani, Mais; Lee, Daniel; Haddad, Abdullah; Mewawalla, Prerna.

Affiliation

Arwani M; Department of Internal Medicine, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA.
Lee D; Department of Hematology-Oncology, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA.
Haddad A; Department of Internal Medicine, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA.
Mewawalla P; Department of Hematology-Oncology, Allegheny General Hospital-Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, Pennsylvania, USA.

BMJ Case Rep ; 20182018 Jul 10.

Article in En | MEDLINE | ID: mdl-29991546

Subject(s)

Genetic Diseases, X-Linked/genetics; Mutation; Neutropenia/genetics; Thrombocytopenia/genetics; Wiskott-Aldrich Syndrome/genetics; Adolescent; Humans; Male; Wiskott-Aldrich Syndrome/complications; Wiskott-Aldrich Syndrome/diagnosis; Wiskott-Aldrich Syndrome Protein/genetics

Key words

genetics; malignant and benign haematology

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Wiskott-Aldrich Syndrome / Genetic Diseases, X-Linked / Mutation / Neutropenia Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: BMJ Case Rep Year: 2018 Document type: Article Affiliation country: United States

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google