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37 results
  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. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... within the neutrophils of those individuals with CHS. Griscelli syndrome (GS) (OMIM PS214450 ). Mild skin hypopigmentation and silvery ... hair are present, but platelet function is normal. Griscelli syndrome may be caused by biallelic pathogenic variants in: ...
  6. Lymphoproliferative Disease, X-Linked - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1406
    ... melanosomes on skin biopsy. Inheritance is autosomal recessive . Griscelli syndrome type 2 (GS2; OMIM 607624 ) is a disorder ... Ménasché G, Fischer A, de Saint Basile G. Griscelli syndrome types 1 and 2. Am J Hum Genet. ...
  7. 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/ ...
  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. 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 ...
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