Ciężki zespół Hermansky'ego-Pudlaka o wczesnym początku z utratą słuchu spowodowany niedoborem AP3D1
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
- Dziedziczenie
- Autosomal recessive
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency