Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, Nakamura K, Kawaguchi H, Ohtsubo M, Yasunaga S, Matsubara K, Sako M, Hara J, Shiohara M, Kojima S, Sato T, Takihara Y, Kobayashi M.
Ishikawa N, et al.
J Med Genet. 2008 Dec;45(12):802-7. doi: 10.1136/jmg.2008.058297. Epub 2008 Jul 8.
J Med Genet. 2008.
PMID: 18611981