Anaesthesia and orphan disease: primary autosomal recessive microcephaly-10 caused by a mutation in the ZNF335 gene

Eur J Anaesthesiol. 2016 Jul;33(7):543-5. doi: 10.1097/EJA.0000000000000358.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Airway Management
  • Anesthesia*
  • Chromosomes, Human, Pair 20 / genetics
  • DNA-Binding Proteins
  • Female
  • Fundoplication
  • Gastroscopy
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Magnetic Resonance Imaging
  • Microcephaly / genetics*
  • Microcephaly / therapy*
  • Mutation / genetics
  • Nuclear Proteins / genetics*
  • Rare Diseases*
  • Transcription Factors

Substances

  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • Transcription Factors
  • ZNF335 protein, human

Supplementary concepts

  • Autosomal Recessive Primary Microcephaly