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  1. Hermansky-Pudlak syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome
    ... unknown. Learn more about the genes associated with Hermansky-Pudlak syndrome HPS1 HPS3 Additional Information from NCBI Gene: AP3B1 ...
  2. HPS1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hps1
    ... the lungs. Health Conditions Related to Genetic Changes Hermansky-Pudlak syndrome At least 31 mutations in the HPS1 gene have been found to cause Hermansky-Pudlak syndrome type 1. Individuals with this form of the ...
  3. HPS3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/hps3
    ... blood clot. Health Conditions Related to Genetic Changes Hermansky-Pudlak syndrome At least 7 mutations in the HPS3 gene have been found to cause Hermansky-Pudlak syndrome type 3, which is a mild form of ...
  4. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... of Medicine Genetics Home Reference Chediak-Higashi syndrome Hermansky-Pudlak Syndrome Network, Inc. One South Road Oyster Bay NY ... Ehl S. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood. 2013; 121 :2943–51. [ PMC ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Hermansky-Pudlak syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  6. Oculocutaneous Albinism Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1166
    ... skin and hair (OCA1B) includes OCA2 , OCA3, OCA4 , Hermansky-Pudlak syndromes 1-7, and X-linked (Nettleship-Falls) ocular ... OCA4 is inherited in an autosomal recessive manner. Hermansky-Pudlak syndromes (HPS) are nine multisystem disorders characterized by oculocutaneous ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome</url><title >Hermansky-Pudlak syndrome</title><other_names >< ...
  8. Genetic Conditions: H 
    https://medlineplus.gov/genetics/condition-h
    ... amaurosis Heritable hypertrophic cardiomyopathy, see Familial hypertrophic cardiomyopathy Hermansky-Pudlak syndrome Hernia, abdominal, see Abdominal wall defect Herpes zoster, ...
  9. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... 1100delC -- 17% c.470T>C p.Ile157Thr 11% Hermansky-Pudlak syndrome AR HPS3 c.1163+1G>A -- 80% 1/ ... JR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- ...
  10. Platelet Disorders 
    https://medlineplus.gov/plateletdisorders.html
    Platelets help wounds heal and prevent bleeding by forming blood clots. Learn about problems from having too few, too many, or abnormal platelets. ... Platelets, also ...
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