A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency-Reference-Cited by-同舟云学术

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A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency

Published:2013-02-25 Issue:7 Volume:60 Page:E29-E31
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr. Blood Cancer

Author:

Estévez Orlando A.,Ortega Consuelo,Tejero Ángeles,Fernández Silvia,Aguado Rocío,Aróstegui Juan I.,González-Roca Eva,Peña José,Santamaría Manuel

Funder

Spanish Ministry of Education

Consejería de Salud Junta de Andalucía, Spain

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.24499/fullpdf

Reference10 articles.

1. Genetic defects in severe congenital neutropenia: Emerging insights into life and death of human neutrophil granulocytes;Klein;Annu Rev Immunol,2011

2. A syndrome with congenital neutropenia and mutations in G6PC3;Boztug;N Engl J Med,2009

3. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: Novel genotypes and phenotypic variability in severe congenital neutropenia;Boztug;J Pediatr,2012

4. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia;Arostegui;Blood,2009

5. Digenic mutations in severe congenital neutropenia;Germeshausen;Haematologica,2010

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Desmoid tumor occurrence in a patient with severe congenital neutropenia type 4: Case history and follow‐up;Pediatric Blood & Cancer;2022-11

2. CDG and immune response: From bedside to bench and back;Journal of Inherited Metabolic Disease;2019-06-25

3. Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry;Orphanet Journal of Rare Diseases;2014-12

4. Testicular failure in a patient with G6PC3 deficiency;Pediatric Research;2014-05-05

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