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- W2019652813 abstract "We report a patient with a unique combination of clinical findings: XY sex reversal, spastic paraplegia, mental retardation, dysmorphism, and infantile-onset olivopontocerebellar hypoplasia. The phenotype of our patient did not coincide with any of the described forms of XY reversal syndromes, hereditary or sporadic spastic paraplegias, or congenital or infantile-onset cerebellar or olivopontocerebellar atrophies or hypoplasias. The disorder of this patient likely represents a genetic condition with pleiotropic effects on brain development and sex determination and adds further evidence for the heterogeneity of spastic paraplegia/infantile olivopontocerebellar hypoplasia syndromes and sex reversal syndromes." @default.
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- W2019652813 date "2000-10-01" @default.
- W2019652813 modified "2023-09-27" @default.
- W2019652813 title "XY sex reversal and a nonprogressive neurologic disorder: a new syndrome?" @default.
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- W2019652813 doi "https://doi.org/10.1016/s0887-8994(00)00200-9" @default.
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