A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C.
Boztug K, et al. Among authors: brandes g.
N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051.
N Engl J Med. 2009.
PMID: 19118303
Free PMC article.