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SEMINIFEROUS TUBULE DYSGENESIS (KLINEFELTER'S SYNDROME) ASSOCIATED WITH FAMILIAL CEREBELLAR ATAXIA
31
Citations
15
References
1960
Year
Developmental BiologyMendelian DisorderGenetic DisorderGeneticsSeminiferous Tubule DysgenesisPathologyGenetic DisturbanceFamilial Cerebellar AtaxiaAbnormal DevelopmentNeuropathologyMedicineTuberous SclerosisNeurogenetics
A case of Klinefelter's syndrome associated with familial cerebellar ataxia is presented. This combination is reported for the first time. Evidence is accumulating that seminiferous tubule dysgenesis is a genetically determined disorder. The association of this condition with another genetic disturbance suggested that a study of the patient's family might be of value. However, no additional cases of seminiferous tubule dysgenesis were found.
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