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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2014
Pynciau:
Review
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg