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  1. Griscelli syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/griscelli-syndrome
    ... respectively. Learn more about the genes associated with Griscelli syndrome MLPH MYO5A RAB27A Inheritance This condition is inherited ...
  2. RAB27A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rab27a
    ... foreign invaders. Health Conditions Related to Genetic Changes Griscelli syndrome At least 24 mutations in the RAB27A gene have been found in people with Griscelli syndrome. These mutations cause a form of the condition ...
  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. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Griscelli syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  6. 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 ...
  7. 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 ...
  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. Genetic Conditions: G 
    https://medlineplus.gov/genetics/condition-g
    ... GRIN2B-related neurodevelopmental disorder GRIN2B-related neurodevelopmental disorder Griscelli syndrome GRN-related frontotemporal dementia, see GRN-related frontotemporal ...
  10. 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 ...
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