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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation

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bone marrow fibrosis, neutropenia, hematopoietic stem cell transplantation, genetics, COHEN-SYNDROME, MYELOFIBROSIS, GENE

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Chicago
Meerschaut, Ilse, MARIA BORDON CUETO DE BRAEM, Catharina Dhooge, Patricia Delbeke, ARNAUD VANLANDER, Amos Simon, Christoph Klein, R Frank Kooy, Raz Somech, and Bert Callewaert. 2015. “Severe Congenital Neutropenia with Neurological Impairment Due to a Homozygous VPS45 p.E238K Mutation: a Case Report Suggesting a Genotype-phenotype Correlation.” American Journal of Medical Genetics Part A 167 (12): 3214–3218.
APA
Meerschaut, I., BORDON CUETO DE BRAEM, M., Dhooge, C., Delbeke, P., VANLANDER, A., Simon, A., Klein, C., et al. (2015). Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 167(12), 3214–3218.
Vancouver
1.
Meerschaut I, BORDON CUETO DE BRAEM M, Dhooge C, Delbeke P, VANLANDER A, Simon A, et al. Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2015;167(12):3214–8.
MLA
Meerschaut, Ilse, MARIA BORDON CUETO DE BRAEM, Catharina Dhooge, et al. “Severe Congenital Neutropenia with Neurological Impairment Due to a Homozygous VPS45 p.E238K Mutation: a Case Report Suggesting a Genotype-phenotype Correlation.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 167.12 (2015): 3214–3218. Print.
@article{7083812,
  author       = {Meerschaut, Ilse and Bordon Cueto De Braem, Maria and Dhooge, Catharina and Delbeke, Patricia and Vanlander, Arnaud and Simon, Amos and Klein, Christoph and Kooy, R Frank and Somech, Raz and Callewaert, Bert},
  issn         = {1552-4825},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS PART A},
  keyword      = {bone marrow fibrosis,neutropenia,hematopoietic stem cell transplantation,genetics,COHEN-SYNDROME,MYELOFIBROSIS,GENE},
  language     = {eng},
  number       = {12},
  pages        = {3214--3218},
  title        = {Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation},
  url          = {http://dx.doi.org/10.1002/ajmg.a.37367},
  volume       = {167},
  year         = {2015},
}

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