| Literature DB >> 26854587 |
Ellis Eshuis-Peters1, Anne Brigitta Versluys2, Marijn Fijke Stokman3, Saskia Nanette van der Crabben3, Sebastiaan W A Nij Bijvank4, Gerda van Wezel-Meijler5.
Abstract
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria, underdevelopment of the cerebellum, and multiple intracranial hemorrhages. Georg Thieme Verlag KG Stuttgart · New York.Entities:
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Year: 2016 PMID： 26854587 DOI： 10.1055/s-0036-1571800
Source DB: PubMed Journal: Neuropediatrics ISSN： 0174-304X Impact factor: 1.947