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  • Title: [r14 syndrome without major dysmorphism].
    Author: de Blois MC, Caille B, Rethoré MO, Dufier JL, Lejeune J.
    Journal: Ann Genet; 1990; 33(3):155-8. PubMed ID: 2288460.
    Abstract:
    An 8-year-old boy, mentally retarded and epileptic since the age of six months, was found carrier of ring 14 chromosome. A dystrophy of the eye fundi was observed (whitish puncta of the macula); except for the "almond shaped eyes", there was no obvious dismorphism.
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