Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
Where this comes from
- Record sourced from PubMed, PMID 17382128.
- 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
Children with symptoms of profound biotinidase deficiency with null mutations are more likely to have hearing loss develop than those with missense mutations, even if not treated for a period of time. Hearing loss appears to be preventable in children with null mutations if treatment is initiated soon after birth.
Medical subject headings
- Biotinidase Deficiency
- Hearing Loss