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10 results
  1. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... Also called "accelerated phase" Diagnosis Suggestive Findings The diagnosis of Chediak-Higashi syndrome (CHS) should be suspected in a proband with any ...
  2. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... Griscelli syndrome (see Table 2b ). Table 2b. Differential Diagnosis of Hermansky-Pudlak Syndrome: Disorders of Platelet Delta Granules View in own window Gene(s) Disorder MOI Clinical Features LYST Chediak-Higashi syndrome (CHS) AR Significantly ↑ frequency of infection in childhood, partial ...
  3. Chediak-Higashi syndrome 
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome
    ... but they typically do not show signs and symptoms of the condition. Chediak-Steinbrinck-Higashi syndrome CHS Oculocutaneous albinism with leukocyte defect Genetic Testing Registry: Chédiak-Higashi syndrome Chédiak-Higashi syndrome National Organization for Rare ...
  4. 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, & ...
  5. 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 ...
  6. 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></ ...
  7. 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</ ...
  8. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... clinical presentation is quite variable. This combination of symptoms is now ... seen in Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by ...
  9. 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; ... prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic ... Blood. 2012;119:2754-63. [ PubMed : 22294731 ] Bryceson ...
  10. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... 6502082 ] 156. McIntosh C, Dehkharghani F. The neurocutaneous syndromes: diagnosis and management for the primary care pediatrician. J ... article : PMC7976303 ] [ PubMed : 14561628 ] 1819. Lin MC, Chen CH, Chi CS. PHACE syndrome: report of one case. Acta Paediatr Taiwan. 2003 ...