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6 results

  1. ... Estimated reading time: 32 minutes Summary Clinical characteristics. Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, ...
  2. ... window Gene(s) Disorder MOI Clinical Features LYST Chediak-Higashi syndrome (CHS) AR Significantly ↑ frequency of infection in childhood, partial ...
  3. ... Hodgkin lymphoma, as opposed to Burkitt lymphoma. LYST Chediak-Higashi syndrome (CHS) AR Partial oculocutaneous albinism, a mild bleeding tendency, & ...
  4. ... list><synonym-list ><synonym >Beige homolog</synonym><synonym >Chediak-Higashi syndrome 1</synonym><synonym >CHS</synonym><synonym >CHS1</synonym><synonym >LYST_HUMAN</synonym></ ...
  5. ... s) Pathway Bloom syndrome BLM/RECQL3 Chromosomal stability Chediak-Higashi syndrome LYST Lysosomal transport regulation Dyskeratosis congenita DKC1 , TERC , ...
  6. ... article : PMC7976303 ] [ PubMed : 14561628 ] 1819. Lin MC, Chen CH, Chi CS. PHACE syndrome: report of one case. Acta Paediatr Taiwan. 2003 ... PubMed : 19858718 ] 2646. Bun YY, Ming CK, Ming CH, et al. ... metameric syndromes. Childs Nerv Syst. 2009 Mar; 25 (3):383– ...