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Article

ERCC6L2-associated inherited bone marrow failure syndrome.

Molecular genetics & genomic medicine - 1 May 2018

Shabanova Iren, Cohen Elisa, Cada Michaela, Vincent Ajoy, Cohn Ronald D, Dror Yigal

Abstract excerpt

BACKGROUND: ERCC6L2-associated disorder has recently been described and only five patients were reported so far. The described phenotype included bone marrow, cerebral, and craniofacial abnormalities. The aim of this study was to further define the genetic and phenotypic spectrum of the disorder by summarizing the five published cases and an additional case that we identified through whole-exome sequencing...

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Identifiers

PMID: 29633571
DOI: 10.1002/mgg3.388
PMCID: PMC6014454

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