Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Co...
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry
About this item
Full title
Author / Creator
Desplantes, Claire , Fremond, Marie Louise , Beaupain, Blandine , Harousseau, Jean Luc , Buzyn, Agnès , Pellier, Isabelle , Roques, Gaelle , Morville, Pierre , Paillard, Catherine , Bruneau, Julie , Pinson, Lucile , Jeziorski, Eric , Vannier, Jean Pierre , Picard, Capucine , Bellanger, Florence , Romero, Norma , de Pontual, Loïc , Lapillonne, Hélène , Lutz, Patrick , Chantelot, Christine Bellanné and Donadieu, Jean
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry.
Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal recessive G6PC3 mutations.
Median age at th...
Alternative Titles
Full title
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry
Authors, Artists and Contributors
Author / Creator
Fremond, Marie Louise
Beaupain, Blandine
Harousseau, Jean Luc
Buzyn, Agnès
Pellier, Isabelle
Roques, Gaelle
Morville, Pierre
Paillard, Catherine
Bruneau, Julie
Pinson, Lucile
Jeziorski, Eric
Vannier, Jean Pierre
Picard, Capucine
Bellanger, Florence
Romero, Norma
de Pontual, Loïc
Lapillonne, Hélène
Lutz, Patrick
Chantelot, Christine Bellanné
Donadieu, Jean
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4279596
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4279596
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-014-0183-8
