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MonoMAC syndrome with GATA2 novel mutation: A case report

GATA2 deficiency was first identified in 2011 and have been reported over 500 individuals with GATA2 mutations. The onset of symptoms ranges from early childhood to late adulthood but very often the diagnosis is made between adolescence and early adulthood. These patients can be relatively asymptoma...

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Detalles Bibliográficos
Autores principales: Belohlavkova, Petra, Hrochova, Katerina, Fatorova, Ilona, Zak, Pavel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9472051/
https://www.ncbi.nlm.nih.gov/pubmed/36119727
http://dx.doi.org/10.1016/j.lrr.2022.100346