Article
Refining the phenotype associated with biallelic DNAJC21 mutations.
Clinical genetics - 1 Aug 2018
D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud J L, Pelletier V-A, Pastore Y D, Soucy J-F
Abstract excerpt
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype...
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