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Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

Bridget A Fernandez, Jane S Green, Ford Bursey, Brendan Barrett, Andrée MacMillan, Sarah McColl, Sara Fernandez, Proton Rahman, Krista Mahoney, Sergio L Pereira, Stephen W Scherer, Kym M Boycott, Michael O Woods* and FORGE Canada Consortium

BMC Medical Genetics 2012, 13:111  doi:10.1186/1471-2350-13-111

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