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
65 results
  1. Albinism 
    https://medlineplus.gov/ency/article/001479.htm
    Oculocutaneous albinism; Ocular albinism ... Albinism occurs when one of several genetic changes makes the body unable to produce or distribute melanin . ... inherited) through families. The most severe form of albinism is called oculocutaneous albinism. People with this type ...
  2. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... term GeneReviews Advanced Search Help < Prev Next > Oculocutaneous Albinism and Ocular Albinism Overview Mervyn G Thomas , MBChB, PhD, FRCOphth, Jonathan ... and ocular albinism. 1. Clinical Characteristics of Oculocutaneous Albinism and Ocular Albinism Albinism is a genetically heterogeneous ...
  3. Oculocutaneous Albinism Type 4 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1510
    ... term GeneReviews Advanced Search Help < Prev Next > Oculocutaneous Albinism Type 4 Synonym: OCA4 Masahiro Hayashi , MD, PhD ... organizations. For information on selection criteria, click here . Albinism Database University of Minnesota MN albinismdb.med.umn. ...
  4. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... 9q22.3 between D9S162 and D9S165.[ 77 ] Oculocutaneous albinism Albinism is a major risk factor for skin ... in heterozygotes.[ 96 ] Table 6. Types of Oculocutaneous Albinism (OCA) View in own window Type Subtype Gene ...
  5. Hermansky-Pudlak Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1287
    ... genes listed in Table 1 . Clinical Diagnosis Oculocutaneous albinism is established by finding hypopigmentation of the skin ... HPS1 , HPS3 , HPS4 , HPS5 , or HPS6 . Differential Diagnosis Albinism. The diagnosis of Hermansky-Pudlak syndrome (HPS) should ...
  6. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... exon and whole-gene deletions or duplications. An albinism or neutropenia panel that includes LYST and other ... degree. 2. Also called "accelerated phase" Partial oculocutaneous albinism (OCA). Pigment dilution, which can involve eyes, hair, ...
  7. PAX6-Related Aniridia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1360
    ... ITPR1 pathogenic variant [ Gerber et al 2016 ]. Oculocutaneous albinism (OCA) and ocular albinism typically present in early infancy with nystagmus but ... which distinguish these disorders from aniridia (see Oculocutaneous Albinism Type 4 and Oculocutaneous Albinism and Ocular Albinism ...
  8. Waardenburg Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1531
    ... info@nad.org nad.org National Organization for Albinism and Hypopigmentation (NOAH) Phone: 800-473-2310 (US ... 887-2310 Fax: 603-887-6049 Email: info@albinism.org www.albinism.org Molecular Genetics Information in ...
  9. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... Steinbrinck-Higashi syndrome</other_name><other_name >Oculocutaneous albinism with leukocyte defect</other_name></other_names></topic>< ...
  10. FRMD7-Related Infantile Nystagmus - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3822
    ... Overlapping w/FIN Distinguishing from FIN 1 Oculocutaneous albinism (OCA) 2, 3 OCA1 (OMIM 203100 , 606952 ) OCA2 ( ... Much poorer visual acuity (in all forms of albinism) Poor binocular vision; strabismus is common Ocular albinism ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · next · last