Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
33 results
  1. 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 ...
  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 Hermansky-Pudlak Syndrome: Disorders of Platelet Delta ...
  3. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... clinical presentation is quite variable. This combination of symptoms is now designated Griscelli syndrome type 1 or Elejalde disease. It has been ...
  4. 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 ... Following Initial Diagnosis To establish the extent of disease and needs ...
  5. 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.
  6. Griscelli syndrome 
    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 ...
  7. EPG5-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584989
    ... not equivalent to a diagnosis of classic Vici syndrome. Diagnosis Suggestive Findings At the more severe end of ... AR Neurodevelopmental disabilities, dysplastic corpus callosum, immunodeficiency RAB27A Griscelli syndrome type 2 (OMIM 607624 ) AR Primary immunodeficiency w/ ...
  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. 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 ...
  10. 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 WAS -Related Disorders .) Dyskeratosis congenita Myelokathexis (WHIM syndrome; ... Following Initial Diagnosis To establish the extent of disease in an ...
previous · 1 · 2 · 3 · next