Синдром Германського-Пудлака, зумовлений дефіцитом AP3B1
ORPHA:664500· Hermansky-Pudlak syndrome due to AP3B1 deficiency
Визначення(English summary)
Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
- Успадкування
- Autosomal recessive