Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Abstract
Background Diamond-Blackfan anaemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterised by erythroid hypoplasia. It is associated with congenital anomalies and a high risk of developing specific cancers. DBA is caused predominantly by autosomal dominant pathogenic variants in at least 15 genes affecting ribosomal biogenesis and function. Two X-linked recessive genes have been identified. Objectives We aim to identify the...
Paper Details
Title
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Published Date
Mar 9, 2017
Journal
Volume
54
Issue
6
Pages
417 - 425
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