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8 results
  1. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... LYST Data are compiled from the following standard references: gene from HGNC ; chromosome locus from ... TRAFFICKING REGULATOR; LYST Molecular Pathogenesis LYST ...
  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. 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</ ...
  6. 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 , ...
  7. 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; ...
  8. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... article : PMC7976303 ] [ PubMed : 14561628 ] 1819. Lin MC, Chen CH, Chi CS. PHACE syndrome: report of one case. Acta Paediatr Taiwan. 2003 ... al. Phakomatosis pigmentovascularis: Implications for severity with special ... Klippel-Trenaunay syndromes. Am J Med Genet A. 2007 Dec 15; ...