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Diagnosis of Prader-Willi syndrome

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The relationship between genotype and phenotype in Prader-Willi syndrome has not been completely delineated. Clinical diagnosis is based on a list of major or minor criteria present in the neonatal period and in later childhood, adolescence, and adult life. Genetic diagnosis is dependent on methylation analysis at the SNURF/SNRPN locus. A study based on the former Anglia and Oxford Health Region (J …

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