The diagnostic odyssey: our family's story

Am J Hum Genet. 2021 Feb 4;108(2):217-218. doi: 10.1016/j.ajhg.2021.01.003.

Abstract

Danny is the father of two boys with MEPAN syndrome and a member of Global Genes' RARE Foundation Alliance Leadership Council.

Publication types

  • Personal Narrative

MeSH terms

  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Research
  • Genetic Testing
  • Heredodegenerative Disorders, Nervous System / diagnosis*
  • Heredodegenerative Disorders, Nervous System / genetics
  • Humans
  • Information Dissemination
  • Male
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics
  • Syndrome
  • Whole Genome Sequencing

Substances

  • Oxidoreductases Acting on CH-CH Group Donors
  • trans-2-enoyl-CoA reductase (NADPH)