Závažná forma Heřmanského-Pudlákova syndromu s časným nástupem a se ztrátou sluchu způsobená deficitem AP3D1
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
- Dědičnost
- Autosomal recessive
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency