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Axial spondylometaphyseal dysplasia with retinitis pigmentosa-a clinical report and diagnostic clues. Journal of applied genetics Reinstein, E., Okenfuss, E. B., Wadhawan, I., Wilnai, Y., Manning, M., Rimoin, D. L., Lachman, R. S. 2013; 54 (2): 231-234
View details for DOI 10.1007/s13353-013-0136-2
View details for PubMedID 23371363