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- W2128698450 abstract "This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosis of an autosomal recessive form of olivopontoneocerebellar hypoplasia/atrophy." @default.
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- W2128698450 date "1992-10-01" @default.
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- W2128698450 title "Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs." @default.
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- W2128698450 doi "https://doi.org/10.1136/jmg.29.10.733" @default.
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