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Related Experiment Videos

Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease.

B R Elejalde, J Holguin, A Valencia

    American Journal of Medical Genetics
    |January 1, 1979
    PubMed
    Summary

    A rare genetic disorder causes severe central nervous system dysfunction, distinctive hair and skin pigment changes, and abnormal cellular inclusions. This condition results from a newly identified gene mutation affecting neuroectoderm and mesoderm development.

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    Expression of nucleoside-metabolizing enzymes in myelodysplastic syndromes and modulation of response to azacitidine.

    Leukemia·2013

    Area of Science:

    • Human Genetics
    • Cell Biology
    • Biochemistry

    Background:

    • A rare syndrome presents with neurological deficits, pigmentary abnormalities, and cellular inclusions.
    • The condition appears in consanguineous families, suggesting a recessive genetic basis.

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