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Archives d'Ophtalmologie et Revue Generale d'Ophtalmologie, 24, 279-283.","journal-title":"Archives d'Ophtalmologie et Revue Generale d'Ophtalmologie"},{"key":"ref_66","first-page":"143","article-title":"Malformations mandibulofaciales et delimitation d'un syndrome oculo-vertebral. J7ournal de","volume":"7","author":"Weyers, H.; Thier, C.J.","year":"1958","unstructured":"Weyers, H., and Thier, C. J. (1958). Malformations mandibulofaciales et delimitation d'un syndrome oculo-vertebral. J7ournal de Genetique Humaine, 7, 143-173.","journal-title":"Genetique Humaine"},{"key":"ref_67","first-page":"55","article-title":"Autosomal recessive oculocutaneous albinism in Man; evidence for genetic heterogeneity","volume":"22","author":"Witkop, Jr., C.J.; Nance, W.E.; Rawls, R.S.; White, J.G.","year":"1970","unstructured":"Witkop, C. J., Jr., Nance, W. E., Rawls, R. S., and White, J. G. (1970). Autosomal recessive oculocutaneous albinism in Man; evidence for genetic heterogeneity. 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