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Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria

Bloom syndrome is a rare autosomal recessive disease, in which BLM gene is mutated, leading to genome instability and proneness to malignancy. It is characterized by short stature, sun-sensitive rash and immunodeficiency. We present a case of bloom syndrome with myelodysplasia complicated by acute m...

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Detalles Bibliográficos
Autores principales: Aljarad, Sara, Alhamid, Ahmad, Rahmeh, Ahmad Rami, Alibraheem, Abdelaziz, Wafa, Abdulsamad, Alachkar, Walid, Aljarad, Ziad, Aziz, Ghasan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217711/
https://www.ncbi.nlm.nih.gov/pubmed/30410776
http://dx.doi.org/10.1093/omcr/omy096