Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families

Becker, K., Beales, P., Calver, D., Matthijs, G., & Mohammed, S. (2002). Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families. Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, 39(1), 68-71. https://doi.org/10.1136/jmg.39.1.68 (Original work published 2002)