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    Clin Genet. 1977 Jan;11(1):73-6.

    Sex-linked chondrodysplasia punctata?

    Happle R, Matthiass HH, Macher E.

    Abstract

    Widespread atrophic lesions and pigmentary disturbances of the skin distributed in a linear or whorled pattern, are seen in some patients with chondrodysplasia punctata of the Conradi-Hünermann type. Arguments are presented in favor of the hypothesis that this association of anomalies constitutes a distinct genetic disorder, which is inherited as an X-linked dominant trait lethal in hemizygous males.

    PMID:
    830452
    [PubMed - indexed for MEDLINE]

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