ERCC6L2‐associated inherited bone marrow failure syndrome

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 performed at the University of Toronto.

• Publication year

  2018

• Venue

  Molecular Genetics & Genomic Medicine

• Publication date

  2018-04-06

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/mgg3.388PMID 29633571PMCID 6014454
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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