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ERCC6L2-associated inherited bone marrow failure syndrome.

著者 Shabanova I , Cohen E , Cada M , Vincent A , Cohn RD , Dror Y
Mol Genet Genomic Med.2018 Apr 06 ; ():.
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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.
PMID: 29633571 [PubMed - as supplied by publisher]
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