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See Latest ArticlesCompound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
Pediatric Blood & Cancer, 06/17/09
Carlsson G et al. - The authors describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation and a frame-shift mutation resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities.
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