Article
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
American journal of medical genetics. Part A - 1 Jul 2023
Lozano Chinga Michell M, Bertuch Alison A, Afify Zeinab, Dollerschell Kaylee, Hsu Joanne I, John Tami D, Rao Emily S, Rowe Robert Grant, Sankaran Vijay G, Shimamura Akiko, Williams David A, Nakano Taizo A
Abstract excerpt
The MECOM gene encodes multiple protein isoforms that are essential for hematopoietic stem cell self-renewal and maintenance. Germline MECOM variants have been associated with congenital thrombocytopenia, radioulnar synostosis and bone marrow failure; however, the phenotypic spectrum of MECOM-associated syndromes continues to expand and novel pathogenic variants continue to be identified. We describe eight...
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