The diagnostic odyssey: our family's story.
Where this comes from
- Record sourced from PubMed, PMID 33545028.
- Also identified by DOI 10.1016/j.ajhg.2021.01.003 and PMC identifier 8175868.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Danny is the father of two boys with MEPAN syndrome and a member of Global Genes' RARE Foundation Alliance Leadership Council.
Medical subject headings
- Genetic Diseases, Inborn
- Heredodegenerative Disorders, Nervous System
- Oxidoreductases Acting on CH-CH Group Donors
- Rare Diseases