ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation

Volume: 167, Issue: 11, Pages: 2748 - 2754
Published: Nov 1, 2015
Abstract
Congenital disorders of glycosylation (CDG) are a group of inborn errors of metabolism presenting with heterogeneous multisystemic clinical manifestations. To date, more than 60 different types of CDG have been reported. ALG3-CDG is very rare, with only nine patients described so far. We report two affected siblings presenting prenatally with skeletal abnormalities associated with dysmorphic features, cerebellar vermis hypoplasia, corpus...
Paper Details
Title
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation
Published Date
Nov 1, 2015
Volume
167
Issue
11
Pages
2748 - 2754
Citation AnalysisPro
  • 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.