Journal of Pediatrics 2007-Apr
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
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Mots clés
Abstrait
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.