Su un caso di sindrome di Wolfram

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    To aim of this paper was to offer a further contribution to the knowledge af the Wolfram Syndrome within the Italian population about hypotheses of its genetic trasmission and diagnostic problems.The study comprised the genetic investigation and the clinical ophthalmological examination of all the family members.Genetic investigation of family members showed the presence of a genetic disorder,consisting in a mutation of the gene wfs1, located on the short arm of chromosome 4, and which codifies for the protein Wolfranin.The gene wfs1 presents high penetrance and expression,since the mutation is recessive, it can only be clinicallly detected when it is present in the homozygous form. It should be borne in mind that a correct diagnosis, followed by eventual genetic investigation, requires a careful investigation for the detection of early ocuylar damage ( optic atrophy).
    Lingua originaleItalian
    pagine (da-a)63-67
    Numero di pagine5
    Stato di pubblicazionePublished - 2011

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