Article
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction.
Journal of clinical immunology - 1 May 2020
Verboon Jeffrey M, Mahmut Dilnar, Kim Ah Ram, Nakamura Mitsutoshi, Abdulhay Nour J, Nandakumar Satish K, Gupta Namrata, Akie Thomas E, Geddis Amy E, Manes Becky, Kapp Meghan E, Hofmann Inga, Gabriel Stacey B, Klein Daryl E, Williams David A, Frangoul Haydar A, Parkhurst Susan M, Crane Genevieve M, Cantor Alan B, Sankaran Vijay G
Abstract excerpt
Studies of genetic blood disorders have advanced our understanding of the intrinsic regulation of hematopoiesis. However, such genetic studies have only yielded limited insights into how interactions between hematopoietic cells and their microenvironment are regulated. Here, we describe two affected siblings with infantile myelofibrosis and myeloproliferation that share a common de novo mutation in the Rho GTPase...
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