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  1. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... Search term GeneReviews Advanced Search Help < Prev Next > Hermansky-Pudlak Syndrome Wendy J Introne , MD, Marjan Huizing , PhD, May ... organizations. For information on selection criteria, click here . Hermansky-Pudlak Syndrome Network, Inc. Phone: 800-789-9HPS Fax: 516- ...
  2. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... selection criteria, click here . MedlinePlus Chediak-Higashi syndrome Hermansky-Pudlak Syndrome Network, Inc. Phone: 800-789-9HPS Fax: 516- ... in clinical research regarding Chediak-Higashi syndrome and Hermansky-Pudlak syndrome . She would be happy to communicate with persons ...
  3. 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/ ...
  4. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... type 3) MYO5A , RAB27A , MLPH Pigment granule transport Hermansky-Pudlak syndrome HPS1 , HPS2/AP3B1 , HPS3 , HPS4 , HPS5 , HPS6 , HPS7/ ... lungs and gastrointestinal tract. This syndrome, known as Hermansky-Pudlak syndrome, is inherited in an autosomal recessive manner but ...
  5. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... 1 to 4 [ Kuht et al 2022 ]. In Hermansky-Pudlak syndrome , a syndromic OCA, foveal hypoplasia ranges from grades ... BLOC1S5 BLOC1S6 DTNBP1 HPS1 HPS3 HPS4 HPS5 HPS6 Hermansky-Pudlak syndrome (HPS) 4% Nearly all children w/HPS-related ...
  6. G6PC3 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK285321
    ... type 1b Griscelli syndrome type 2 (OMIM 607624 ) Hermansky-Pudlak syndrome type 2 Immunodeficiency due to defect in MAPBP- ... hematopoietic stem cell transplantation for acute myelogeneous leukemia Prevention of Secondary Complications Good dental hygiene, including careful ...
  7. Oculocutaneous Albinism Type 4 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1510
    ... formerly C10orf11 ) AR Relatively severe impaired visual acuity Hermansky-Pudlak syndrome (HPS) HPS1 AP3B1 ( HPS2 ) HPS3 HPS4 HPS5 HPS6 ... with OCA4, especially in cases of severe hypopigmentation. Prevention of Secondary Complications Individuals with OCA4 should stay ...
  8. Excluded Studies - Management of Postpartum Hemorrhage - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK294466
    ... 3, X-4. 1604. Gahl WA, Huizing M. Hermansky-Pudlak Syndrome. 2010. X-1, X-3. [ PubMed : 20301464 ] 1605. ...
  9. pdf2018NewHeadingsSingleColumn508.pdf 
    https://www.nlm.nih.gov/.../2018NewHeadingsSingleColumn508.pdf
    ... the DTNBP1 gene are associated with Type 7 HERMANSKY-PUDLAK SYNDROME and SCHIZOPHRENIA. Tree locations: Dystrophin-Associated Proteins D12. ... 242.384.100.396 Long-Acting Reversible Contraception Prevention of CONCEPTION by devices, chemical substances or agents ...
  10. X-Linked Lymphoproliferative Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1406
    ... inflammation, predisposition to infection, & lymphoma. AP3B1 AP3B1 -related Hermansky-Pudlak syndrome AR Strong susceptibility to EBV infection, incl severe ...
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