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  1. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... HPS1 , HPS3 , HPS4 , HPS5 , or HPS6 . Differential Diagnosis Albinism. The diagnosis of Hermansky-Pudlak syndrome (HPS) should be considered ... dense bodies. Genes known to be associated with albinism are summarized in Table 2a . Table ... Diagnosis of Hermansky-Pudlak Syndrome: Disorders with Albinism View ...
  2. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... Albinism Genetic Causes of Oculocutaneous Albinism and Ocular Albinism Differential Diagnosis of Ocular Findings in Oculocutaneous Albinism and Ocular ...
  3. Oculocutaneous Albinism Type 4 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1510
    ... a VEP, indicates that the diagnosis is not albinism/OCA. Establishing the Diagnosis The diagnosis of OCA4 is established in a ... SLC45A2 and other genes of interest associated with albinism (see Differential Diagnosis ) may be considered. Note: (1) The genes included ...
  4. Albinism 
    https://medlineplus.gov/ency/article/001479.htm
    Contact your provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also contact your provider if you notice any skin changes that might be an early ...
  5. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... Chediak-Higashi syndrome; HLH = hemophagocytic lymphohistiocytosis; OCA = oculocutaneous albinism 1. Also called "accelerated phase" Diagnosis Suggestive Findings The diagnosis of Chediak-Higashi syndrome ( ...
  6. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.</html:p><html:p >There are several additional, rare types of oculocutaneous ... ...
  7. Oculocutaneous albinism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism
    ... vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type ... but they typically do not show signs and symptoms of the condition. Other Names for This ... Additional Information & Resources Genetic Testing Information ...
  8. NLM Digital Collections - Diseases of the skin : their description, pathology, diagnosis, and treatment, with special ... 
    Publication: Philadelphia : P. Blakiston, Son & Co., 1893
    resource.nlm.nih.gov/67430540R
    ... Albinismus; Congenital leucoderma; Congenital leucasmus; Congenital leucopathia; Congenitalachroma. Symptoms.-Albinism is the congenital absence of pigment in the ...
  9. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... 4 of whom met clinical criteria for a diagnosis of oculocutaneous albinism.[ 88 ] Collectively, more than 600 unique ocular albinism– ...
  10. Ocular albinism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/ocular-albinism
    ... type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss. Frequency The most common ...
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