C. M. Roifman, D. Chitayat: Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. In: Clinical genetics. Band 76, Nummer 5, November 2009, S. 449–457, doi:10.1111/j.1399-0004.2009.01239.x, PMID 19863561.
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C. M. Roifman, D. Chitayat: Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. In: Clinical genetics. Band 76, Nummer 5, November 2009, S. 449–457, doi:10.1111/j.1399-0004.2009.01239.x, PMID 19863561.