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34 results
  1. ... 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. ... 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. ... 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 ...
  4. ... published></health-condition-summary><health-condition-summary ><name >Hermansky-Pudlak syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  5. ... 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 ...
  6. ... 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 HISTORICAL REFERENCE ONLY.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, ...
  7. ... Anemia. Mehta PA, Ebens C. GeneReviews(®). 1993 Review Hermansky-Pudlak Syndrome. [GeneReviews(®). 1993] Review Hermansky-Pudlak Syndrome. Introne WJ, ...
  8. ... Anemia. Mehta PA, Ebens C. GeneReviews(®). 1993 Review Hermansky-Pudlak Syndrome. [GeneReviews(®). 1993] Review Hermansky-Pudlak Syndrome. Introne WJ, ...
  9. ... 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 ...
  10. ... 3, X-4. 1604. Gahl WA, Huizing M. Hermansky-Pudlak Syndrome. 2010. X-1, X-3. 1605. Gao Y, ...
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