EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Autor: Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F; Department of Genome Analysis, Academic Medical Centre, Amsterdam, the Netherlands. f.baas@amc.uva.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Feb 13; Vol. 9, pp. 23. Date of Electronic Publication: 2014 Feb 13.