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Case Reports
. 2010 Jan;95(1):168-9.
doi: 10.3324/haematol.2009.015370.

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia

Marina Lanciotti, Stefania Indaco, Sonia Bonanomi, Tiziana Coliva, Elena Mastrodicasa, Gianluca Caridi, Michaela Calvillo, Carlo Dufour
Case Reports

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia

Marina Lanciotti et al. Haematologica. 2010 Jan.
No abstract available

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Figures

Figure 1.
Figure 1.
Sequence chromatograms of kindred 1. The filled symbol denotes the affected patient who is compound heterozygous for two mutations, each of them inherited from one of the parents. Both parents and one brother are heterozygous carriers (half-filled symbol). Mutations are indicated with black arrows. Square symbols denote male family members, the circle denotes a female.
See this image and copyright information in PMC

Comment on

References

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