Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

BACKGROUND: 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. METHODS: Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 pa...

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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: 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, Donadieu, Jean
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Review
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4279596/
https://ncbi.nlm.nih.gov/pubmed/25491320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0183-8
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