Heřmanského-Pudlákův syndrom způsobený deficitem BLOC-1
ORPHA:231531· ICD-10 E70.3· Hermansky-Pudlak syndrome due to BLOC-1 deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
ORPHA:231531· ICD-10 E70.3· Hermansky-Pudlak syndrome due to BLOC-1 deficiency