Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia

Author:

Boonyawat Boonchai,Dhanraj Santhosh,al Abbas Fahad,Zlateska Bozana,Grunenbaum Eyal,Roifman Chaim M.,Steele Leslie,Meyn Stephen,Blanchette Victor,Scherer Stephen W.,Swierczek Sabina,Prchal Josef,Zhu Qili,Torgerson Troy R.,Ochs Hans D.,Dror Yigal

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Reference29 articles.

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2. Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2009;15(1 Suppl):84–90.

3. Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008;15:30–6.

4. Wiskott A. Familiarer, angeborener morbus werlhofii? Monatsschr Kinderheilkd. 1937;68:212–6.

5. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 1954;13:133–9.

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