Article
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
Journal of medical genetics - 1 Jun 2017
Mirabello Lisa, Khincha Payal P, Ellis Steven R, Giri Neelam, Brodie Seth, Chandrasekharappa Settara C, Donovan Frank X, Zhou Weiyin, Hicks Belynda D, Boland Joseph F, Yeager Meredith, Jones Kristine, Zhu Bin, Wang Mingyi, Alter Blanche P, Savage Sharon A
Abstract excerpt
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....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.