Karin Nordborg
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View article: Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutations
Ataxia-pancytopenia syndrome with <i>SAMD9L</i> mutations Open
The neurologic phenotype of this syndrome is defined by balance or gait impairment, nystagmus, hyperreflexia in the lower limbs and, frequently, marked cerebellar atrophy. Paracentral retinal dysfunction may contribute to glare, reading pr…