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    Am J Hum Genet. 1981 Nov;33(6):957-67.

    The Sabinas syndrome.

    Abstract

    We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.

    PMID:
    7325159
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC1685163
    Free PMC Article

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