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34 results
  1. Griscelli syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/griscelli-syndrome
    ... TYPE 1; GS1 GRISCELLI SYNDROME, TYPE 2; GS2 GRISCELLI SYNDROME, TYPE 3; GS3 Scientific Articles on PubMed PubMed References Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, ...
  2. RAB27A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rab27a
    ... RAB27A Gene and Variant Databases NCBI Gene ClinVar References Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in ...
  3. MLPH gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mlph
    ... eye coloring. Health Conditions Related to Genetic Changes Griscelli syndrome At least one mutation in the MLPH gene has been found to cause Griscelli syndrome. This genetic change causes a form of the ...
  4. MYO5A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/myo5a
    ... brain function. Health Conditions Related to Genetic Changes Griscelli syndrome At least two mutations in the MYO5A gene have been found in people with Griscelli syndrome. These mutations cause a form of the condition ...
  5. 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 ...
  6. 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 ...
  7. 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 ...
  8. 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_ ...
  9. 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 ...
  10. 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; ...
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