Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations
Abstract
Objectives:
Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients until the recent identification of EXOSC3 mutations in several families with relatively mild course of PCH1. We aim to genetically...Paper Details
Title
Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations
Published Date
Jan 29, 2013
Journal
Volume
80
Issue
5
Pages
438 - 446
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History