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Results 1 - 5 of 5 for "Hermansky-Pudlak" syndrome
  1. Hermansky-Pudlak syndrome 
    Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) ...
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  2. HPS1 gene 
    ... the HPS1 gene have been found to cause Hermansky-Pudlak syndrome type 1. Individuals with this form of the ... pulmonary fibrosis. The HPS1 gene mutations that cause Hermansky-Pudlak syndrome type 1 impair the normal function of BLOC- ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  3. HPS3 gene 
    ... the HPS3 gene have been found to cause Hermansky-Pudlak syndrome type 3, which is a mild form of ... bleeding problems. The HPS3 gene mutations that cause Hermansky-Pudlak syndrome type 3 impair the normal function of BLOC- ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  4. Chediak-Higashi syndrome 
    ... CHS PubMed Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ...
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome - Genetics
  5. LYST gene 
    ... Gene ClinVar Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics