SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient

This publication has 23 references indexed in Scilit:

• Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications
  Human Mutation, 2020
• International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
  Journal of Inherited Metabolic Disease, 2020
• Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
  Journal of Inherited Metabolic Disease, 2020
• Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation
  Journal of Inherited Metabolic Disease, 2019
• Phenotypic variability of patients with protein glycosylation defects
  European Journal of Paediatric Neurology, 2017
• Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
  The American Journal of Human Genetics, 2016
• Expanding the Molecular and Clinical Phenotype of SSR4-CDG
  Human Mutation, 2015
• DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation
  The American Journal of Human Genetics, 2012
• Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
  The American Journal of Human Genetics, 2008
• A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation
  The American Journal of Human Genetics, 2008