Number of the records: 1  

piebaldizmus

  1. Subject h.piebaldizmus
    Subject h.Piebaldism
    Entry termspieboldizmus
    albinizmus ohraničený
    albinismus circumscriptus
    albinizmus čiastočný
    depigmentácie kože ohraničené
    English X referencesAlbinism, Cutaneous
    Albinism, Partial
    Scope note in EnglishAutosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
    See also reference (FX) in Slovak Waardenburgov syndróm
    See also reference (FX) in English Waardenburg Syndrome
    Links (2) - MeSH descriptor
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Number of the records: 1  

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