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Familial severe congenital neutropenia associated with infantile osteoporosis: A new entity

✍ Scribed by R. Elhasid; L.C. Hofbauer; S. Ish-Shalom; M. Ben-Arush; O. Koc; J.M. Rowe; A. Etzioni

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
66 KB
Volume
72
Category
Article
ISSN
0361-8609

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Severe congenital neutropenia in a multi
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation
✍ Esther van de Vosse; Els M. Verhard; Anton J. T. Tool; AdriΓ«tte W. de Visser; Ta πŸ“‚ Article πŸ“… 2010 πŸ› Springer 🌐 English βš– 218 KB

We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25Β years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes __ELANE__