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15 results
  1. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... BTBD12 , FANCQ/ERCC4/XPF , FANCS/BRCA1 DNA repair Griscelli syndrome (type 1, type 2, and type 3) MYO5A , ... in the first decade of life.[ 123 - 125 ] Griscelli syndrome, also inherited in an autosomal recessive manner, was ...
  2. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... 2004] , these disorders include Chediak-Higashi syndrome and Griscelli syndrome (see Table 2b ). Table 2b. Differential Diagnosis of ... allogenic HSCT – develop neurologic findings. MLPH MYO5A RAB27A Griscelli syndrome 2 (OMIM 214450 ) AR Mild hypopigmentation & immunodeficiency Can ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/griscelli-syndrome</url><title >Griscelli syndrome</title><other_names ><other_ ...
  4. Familial Hemophagocytic Lymphohistiocytosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1444
    ... inflammasome Enterocolitis; extremely ↑ levels of IL-18 RAB27A Griscelli syndrome type 2 (OMIM 607624 ) AR Defective granule-mediated ... Romagnoli P, Griffiths GM, Aricò M. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively ...
  5. ELANE-Related Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1533
    ... OMIM 267500 ) Cartilage-hair hypoplasia Chediak-Higashi syndrome Griscelli syndrome (OMIM PS214450 ) Barth syndrome Wiskott-Aldrich syndrome (See ...
  6. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... described in affected family members. MLPH MYO5A RAB27A Griscelli syndrome (GS) (OMIM PS214450 ) AR Mild skin hypopigmentation & silvery- ... Henter JI. Treatment of the X-linked lymphoproliferative, Griscelli and Chediak-Higashi syndromes by HLH directed therapy. Pediatr Blood Cancer. 2009; ...
  7. Skin Pigmentation Disorders | Hyperpigmentation | MedlinePlus 
    https://medlineplus.gov/skinpigmentationdisorders.html
    ... Degos disease: MedlinePlus Genetics (National Library of Medicine) Griscelli syndrome: MedlinePlus Genetics (National Library of Medicine) Hermansky-Pudlak ...
  8. Immune System and Disorders | Autoimmune Disease | MedlinePlus 
    https://medlineplus.gov/immunesystemanddisorders.html
    ... hemophagocytic lymphohistiocytosis: MedlinePlus Genetics (National Library of Medicine) Griscelli syndrome: MedlinePlus Genetics (National Library of Medicine) Hepatic veno- ...
  9. G6PC3 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK285321
    ... neutropenia Cohen syndrome Glycogen storage disease type 1b Griscelli syndrome type 2 (OMIM 607624 ) Hermansky-Pudlak syndrome type ...
  10. X-Linked Lymphoproliferative Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1406
    ... often not identified in persons w/fHLH. RAB27A Griscelli syndrome type 2 (GS2) (OMIM 607624 ) AR Disorder of ... Database (XIAP) Mutation registry for X-linked lymphoproliferative syndrome ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
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