A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep15814.pdf
Reference45 articles.
1. Clericuzio, C., Hoyme, H. E. & Asse, J. M. Immune deficient poikiloderma: a new genodermatosis. Am. J. Hum. Genet. 49, A661 (1991).
2. Van Hove, J. L. et al. Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am. J. Med. Genet. A 132A, 152–158 (2005).
3. Mostefai, R. et al. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am. J. Med. Genet. 146A, 2762–2769 (2008).
4. Concolino, D. et al. Clericuzio type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am. J. Med. Genet. A 152A, 2588–2594 (2010).
5. Colombo, E. A. et al. Novel C16orf57 mutations in patients with poikiloderma with neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. Orphanet J. Rare Dis. 7, 7 (2012).
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