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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome.

A Bedouin family is described with an unusual form of spinocerebellar degeneration. Spastic ataxia was found to be associated with congenital cataracts, macular corneal dystrophy and non-axial myopia, in the absence of retardation of somatic or mental maturation. Immunological abnormalities were common. Genetic analysis revealed that the pedigree is expressing the transmission and segregation of a single mutant autosomal recessive gene.[1]

References

  1. Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome. Mousa, A.R., Al-Din, A.S., Al-Nassar, K.E., Al-Rifai, K.M., Rudwan, M., Sunba, M.S., Behbehani, K. J. Neurol. Sci. (1986) [Pubmed]
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