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- W1878702188 abstract "VPS45 mutations cause severe congenital neutropenia (SCN). We report on a girl with SCN and neurological impairment harboring a homozygous p.E238K mutation in VPS45 (vacuolar sorting protein 45). She successfully underwent hematopoietic stem cell transplantation. Our findings delineate the phenotype and indicate a possible genotype–phenotype correlation for neurological involvement. © 2015 Wiley Periodicals, Inc." @default.
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- W1878702188 date "2015-09-11" @default.
- W1878702188 modified "2023-10-18" @default.
- W1878702188 title "Severe congenital neutropenia with neurological impairment due to a homozygous<i>VPS45</i>p.E238K mutation: A case report suggesting a genotype-phenotype correlation" @default.
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- W1878702188 doi "https://doi.org/10.1002/ajmg.a.37367" @default.
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