References
Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GCM, Clayton-Smith J. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet. 2003;40(4):233–41.
Duplomb L, Duvet S, Picot D, Jego G, El Chehadeh-Djebbar S, Marle N, et al. Cohen syndrome is associated with major glycosylation defects. Hum Mol Genet. 2014;23(9):2391–9.
El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, et al. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. Eur J Hum Genet. 2013;21(7):736–42.
Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, et al. Delineation of Cohen syndrome following a large-scale genotype- phenotype screen. Am J Hum Genet. 2004;75(1):122–7.
Rezaei N, Moazzami K, Aghamohammadi A, Klein C. Neutropenia and primary immunodeficiency diseases. Int Rev Immunol. 2009;28(5):335–66.
Wintergerst U, Kuijpers TW, Rosenzweig SD, Holland SM, Abinun M, Malech HL, Rezaei N. Phagocytes defects. In: Rezaei N, Aghamohammadi A, Notarangelo LD, editors. Primary immunodeficiency diseases: definition, diagnosis, and management. 2nd ed. Springer Verlag, Berlin, Heidelberg; 2017. p. 280.
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Roxo-Junior, P., Mina, I. (2018). Cohen Syndrome. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_157-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_157-1
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