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Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene

17 Aug 2017

Abstract excerpt

Inherited bone marrow failure syndromes (IBMFS) are group of disorders that lead to inadequate production of blood cells. Mutations in genes involved in telomere maintenance, DNA repair, and the cell cycle cause IBMFS. ERCC6L2 gene mutations have been associated with bone marrow failure that includes developmental delay and microcephaly. We report 2 cases of bone marrow failure with no extra-hematopoietic...

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PMID: 28815563
DOI: 10.1111/cge.13125

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