Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

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author: Stephen W. Scherer  M Stephen Meyn  Qili Zhu  Yigal Dror  Troy R Torgerson  Victor S. Blanchette  Hans D. Ochs 

Publication date August 14, 2013
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