Sindrome di Hermansky-Pudlak grave ad esordio precoce con sordità da deficit di AP3D1
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
- Trasmissione
- Autosomal recessive
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency