SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card

Eur J Hum Genet. 2020 Sep;28(9):1297-1300. doi: 10.1038/s41431-020-0647-3. Epub 2020 May 18.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics*
  • Cataract / diagnosis
  • Cataract / genetics*
  • Coloboma / diagnosis
  • Coloboma / genetics*
  • Facies
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Kyphosis / diagnosis
  • Kyphosis / genetics*
  • Membrane Proteins / genetics*
  • Mutation
  • Phenotype
  • Sensitivity and Specificity

Substances

  • Membrane Proteins
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
  • SRD5A3 protein, human

Supplementary concepts

  • Kahrizi Syndrome