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A Case Report of Diamond-Blackfan Anaemia with RPS19 Mutation

Diamond Blackfan Anaemia (DBA) is a rare disorder which presents with anaemia in early childhood. This heterogenous disorder is mainly autosomal dominantly inherited. Significantproportions of the cases are associated with craniofacial anomalies and some cases may end up developing malignancy. The...

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Principais autores: Quazi Smita Haque, Md. Maruf Al Hasan, Muhammad Shahidul Islam Sikder, Sazzad Zayed Chowdhury, Masba Uddin Chowdhury, Abu Jafar Mohammed Saleh
Format: Artigo
Sprog:Inglês
Udgivet: Haematology Society of Bangladesh 2021-05-01
Serier:Haematology Journal of Bangladesh
Fag:
Diamond–Blackfan anemia
DBA
Bone marrow failure
Rare disease
RPS19
Online adgang:https://journal.hematologybd.org/index.php/haematoljbd/article/view/67
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