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11 results
  1. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... Estimated reading time: 32 minutes Summary Clinical characteristics. Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, ...
  2. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... window Gene(s) Disorder MOI Clinical Features LYST Chediak-Higashi syndrome (CHS) AR Significantly ↑ frequency of infection in childhood, partial ...
  3. X-Linked Lymphoproliferative Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1406
    ... Hodgkin lymphoma, as opposed to Burkitt lymphoma. LYST Chediak-Higashi syndrome (CHS) AR Partial oculocutaneous albinism, a mild bleeding tendency, & ...
  4. FRMD7-Related Infantile Nystagmus - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3822
    ... nystagmus Normal hair & skin pigmentation X-linked inheritance Chediak-Higashi syndrome (CHS) LYST AR Infantile nystagmus In CHS: Partial OCA ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... list><synonym-list ><synonym >Beige homolog</synonym><synonym >Chediak-Higashi syndrome 1</synonym><synonym >CHS</synonym><synonym >CHS1</synonym><synonym >LYST_HUMAN</synonym></ ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... gov/genetics/condition/chediak-higashi-syndrome</url><title >Chediak-Higashi syndrome</title><other_names ><other_name >CHS</other_name><other_name >Chediak-Steinbrinck-Higashi syndrome</ ...
  7. Chediak-Higashi syndrome 
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CHEDIAK-HIGASHI SYNDROME; CHS PubMed Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb ...
  8. LYST gene 
    https://medlineplus.gov/genetics/gene/lyst
    ... disease. More About This Health Condition Beige homolog Chediak-Higashi syndrome 1 CHS CHS1 LYST_HUMAN Tests of LYST PubMed LYSOSOMAL TRAFFICKING REGULATOR; LYST NCBI Gene ClinVar ... Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb ...
  9. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... s) Pathway Bloom syndrome BLM/RECQL3 Chromosomal stability Chediak-Higashi syndrome LYST Lysosomal transport regulation Dyskeratosis congenita DKC1 , TERC , ...
  10. Familial Hemophagocytic Lymphohistiocytosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1444
    ... iNKT cells Chronic EBV infection; lymphoma 3 LYST Chediak-Higashi syndrome AR Defective granule-mediated cytotoxicity Abnormal pigment; nystagmus; ...
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