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Article

A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype–genotype correlation

We report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at birth, including bilateral cataracts, bilateral glaucoma, bilateral severe hearing impairm...

T. Kondoh, N. Okamoto, N. Norimatsu, M. Uetani, G. Nishimura… in Journal of Human Genetics (2007)