Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Kristof Van Schil, Françoise Meire, Marcus Karlstetter, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Eva Scheiffert, Christian Van Nechel, Thomas Langmann, Nicolas Deconinck,

Genetics in Medicine · 2014 · 42 citations · 24 references

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