Display Settings:

Format

Send to:

Choose Destination
    Clin Genet. 1991 May;39(5):330-7.

    Piebaldism: an autonomous autosomal dominant entity.

    Source

    MRC Research Unit for Inherited Skeletal Disorders, University of Cape Town, South Africa.

    Abstract

    Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.

    PMID:
    1860249
    [PubMed - indexed for MEDLINE]

      Supplemental Content

      Save items

      loading

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk