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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| 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 |