[Longitudinal study of a patient affected with mucopolysaccharidosis and presenting particular ocular manifestations].
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Biomedical subjects
Publications and source records attributed to J F Cuendet.
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Up-to date settlement, after 34 years, of a huge pedigree of 1391 individuals of which 77 were affected. The dominant autosomal mode of inheritance is confirmed. Nevertheless, discovery of an incomplete penetrance. The offspring of two affected individuals suggest that the heterozygotes and the affected homozygotes are identical. So an intermediate mode of inheritance would be excluded.