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Il bambino con sindrome di Prader-Willi - Societa' Italiana Obesità ...

Il bambino con sindrome di Prader-Willi - Societa' Italiana Obesità ...

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Sindrome <strong>di</strong> <strong>Prader</strong>-<strong>Willi</strong><br />

<strong>Prader</strong> <strong>Willi</strong>: : introduzione (4)<br />

microdelezione (Ledbetter et<br />

al., 1981)<br />

<strong>di</strong>fetto dell’imprinting<br />

<strong>di</strong>somia uniparentale<br />

(Nicholls et al., 1989)<br />

eterogeneità genetica<br />

(Dickens et al., 1992)<br />

Sindrome <strong>di</strong> <strong>Prader</strong>-<strong>Willi</strong><br />

<strong>Prader</strong> <strong>Willi</strong>: : introduzione (5)<br />

Finally PWS is an excellent<br />

example of a genetic <strong>di</strong>sorder that<br />

is “treatable” as shown by the<br />

markedly improved outcomes in<br />

affected in<strong>di</strong>viduals who receive<br />

early <strong>di</strong>agnosis and appropriate<br />

therapy

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