Concepedia

Publication | Open Access

Pontocerebellar hypoplasia type 1

DOIFull Paper Access

103

Citations

17

References

2013

Year

Sabine Rudnik‐Schöneborn, Jan Senderek, Joanna C. Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul‐Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner,
Neurology

Abstract

EXOSC3 mutations account for 30%-40% of patients with PCH1 with variability in survival and clinical severity that is correlated with the genotype.

References

YearCitations

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