Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Aldinger, Kimberly A and Keyword is Cerebellar Diseases [Clear All Filters]
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49, 457-464 (2017).
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet 95, 227-34 (2014).
