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  • Title: Smith-Lemli-Opitz syndrome: the changing phenotype with age.
    Author: de Die-Smulders C, Fryns JP.
    Journal: Genet Couns; 1992; 3(2):77-82. PubMed ID: 1642814.
    Abstract:
    In this report we present follow up data of two brothers with Smith-Lemli-Opitz syndrome. The changes with ageing are striking and few of the typical SLO traits are still present, which makes it extremely difficult to make the diagnosis Smith-Lemli-Opitz syndrome at adult age.
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