Early-onset autosomal recessive cerebellar ataxia...

Genetics in Medicine 2015 / 4 Vol. 17; Iss. 4

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

Van Schil, Kristof, Meire, Françoise, Karlstetter, Marcus, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Scheiffert, Eva, Van Nechel, Christian, Langmann, Thomas, Deconinck, Nicolas, De Baere,
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Volume:
17
Language:
english
Journal:
Genetics in Medicine
DOI:
10.1038/gim.2014.95
Date:
April, 2015
File:
PDF, 2.43 MB
english, 2015
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