References
Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: Diagnosis, molecular bases and patient management. Orphanet J Rare Dis. 2011;6: 26.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 2009;360: 32–43.
Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009;147: 535–42.
Banka S, Wynn R, Byers H, Arkwright PD, Newman WG. G6PC3 mutations cause non-syndromic severe congenital neutropenia. Mol Genet Metab. 2013;108: 138–41.
Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, et al. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet. 2011;19: 18–22.
Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood. 2006; 107:4628–35.
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SK: concept, patient care and manuscript drafting; SuKP, SKP: Patient care and final manuscript drafting.
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Khera, S., Pramanik, S.K. & Patnaik, S.K. A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia. Indian Pediatr 57, 574–575 (2020). https://doi.org/10.1007/s13312-020-1861-3
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DOI: https://doi.org/10.1007/s13312-020-1861-3