Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype–phenotype correlation

Publisher: John Wiley & Sons Inc

E-ISSN: 1552-4833|167|12|3214-3218

ISSN: 1552-4825

Source: American Journal Of Medical Genetics Part A, Vol.167, Iss.12, 2015-12, pp. : 3214-3218

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Abstract