A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins

Mutations in the transcription factor GATA2 can cause MonoMAC syndrome, a GATA2 deficiency disease characterized by several findings, including disseminated nontuberculous mycobacterial infections, severe deficiencies of monocytes, natural killer cells, and B lymphocytes, and myelodysplastic syndrom...

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Detalles Bibliográficos
Autores principales: West, Robert R., Bauer, Thomas R., Tuschong, Laura M., Embree, Lisa J., Calvo, Katherine R., Tillo, Desiree, Davis, Joie, Holland, Steven M., Hickstein, Dennis D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society of Hematology 2023
Materias:
Myeloid Neoplasia
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10587712/
https://www.ncbi.nlm.nih.gov/pubmed/37595058
http://dx.doi.org/10.1182/bloodadvances.2023010458

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10587712/
https://www.ncbi.nlm.nih.gov/pubmed/37595058
http://dx.doi.org/10.1182/bloodadvances.2023010458

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