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28 results
  1. Griscelli syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/griscelli-syndrome
    ... their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function ... disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... their genetic cause and pattern of signs and symptoms.</html:p><html:p >Griscelli syndrome type 1 involves severe problems with brain function ... disease has many of the same signs and symptoms, and some researchers have ... that Griscelli syndrome type 1 and Elejalde disease are actually the ...
  3. Skin Pigmentation Disorders 
    https://medlineplus.gov/skinpigmentationdisorders.html
    Read about skin pigmentation disorders, which affect the color of your skin. It could be too light or too dark, in certain areas or all over the body.
  4. 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: ...
  5. 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. ...
  6. 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_ ...
  7. 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 ...
  8. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... Buchbinder D, Nugent DJ, Fillipovich AH. Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet. ...
  9. Immune System and Disorders 
    https://medlineplus.gov/immunesystemanddisorders.html
    ... treated, it can lead to AIDS (acquired immunodeficiency syndrome). People with AIDS have badly damaged immune systems. They get an increasing number of severe illnesses.
  10. Genetic Conditions: P 
    https://medlineplus.gov/genetics/condition-p
    ... see CLN4 disease Partial albinism with immunodeficiency, see Griscelli syndrome Partial aniridia-cerebellar ataxia-oligophrenia, see Gillespie syndrome ...
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