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  • Title: [Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].
    Author: Dupont JM, Cuisset L.
    Journal: Arch Pediatr; 1998 Apr; 5(4):418-24. PubMed ID: 9759164.
    Abstract:
    Prader-Willi and Angelman syndromes are two genetic diseases whose clinical diagnosis is often impaired by a wide variability in some clinical findings. New insights in the genetic basis of these disorders allow the proposition of a biological approach to detect almost all Prader-Willi syndrome patients and over 80% of Angelman syndrome patients. Moreover, the results of these tests are indispensable for the evaluation of the recurrence risk.
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