Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel…
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Autosomal recessive cerebellar ataxia
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