ERCC6L2-associated inherited bone marrow failure syndrome.
Iren ShabanovaElisa CohenMichaela CadaAjoy VincentRonald D CohnYigal DrorPublished in: Molecular genetics & genomic medicine (2018)
ERCC6L2-associated disorder is a multisystem disorder. The phenotype spectrum includes bone marrow failure, cerebral, and craniofacial abnormalities, as well as cerebellar and retinal abnormalities.