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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. 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 ...
  3. 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 ...
  4. 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 ...
  5. 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 ...
  6. 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/ ...
  7. 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 ...
  8. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... 1 to 4 [ Kuht et al 2022a ]. 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 ...
  9. 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 ... HISTORICAL REFERENCE ONLY. Lewis RA. GeneReviews(®). 1993 Review Hermansky-Pudlak Syndrome. [GeneReviews(®). 1993] Review Hermansky-Pudlak Syndrome. Introne WJ, ...
  10. Poikiloderma with Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK459118
    ... K, Cunniff CM, Kucine N. GeneReviews(®). 1993 Review Hermansky-Pudlak Syndrome. [GeneReviews(®). 1993] Review Hermansky-Pudlak Syndrome. Introne WJ, Huizing M, Malicdan MCV, O'Brien ...
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