Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
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F. Baas | E. Aronica | S. Rudnik-Schöneborn | H. Mei | J. Senderek | P. Barth | G. Hajmousa | M. Dusl | T. van Dijk