Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure

Pathogenic variants in MECOM, a gene critical to the self-renewal and proliferation of hematopoietic stem cells, are known to cause a rare bone marrow failure syndrome associated with amegakaryocytic thrombocytopenia and bilateral radioulnar synostosis known as RUSAT2. However, the spectrum of disea...

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Detalles Bibliográficos
Autores principales: Dash, Camille A., Madden, Jill A., Cummings, Christy, Rose, Melissa, Wilson, Sheria D., Mori, Mari, Agrawal, Pankaj B., Chaudhari, Bimal P., Wojcik, Monica H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393185/
https://www.ncbi.nlm.nih.gov/pubmed/37230770
http://dx.doi.org/10.1101/mcs.a006289

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