hrp0089p2-p393 | Thyroid P2 | ESPE2018
, Minocci Alessandro
, Sartorio Alessandro
, Crino Antonino
Objectives: Prader-Willi syndrome (PWS) is a complex multisystem disorder due to loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. The majority of the cases are due to the deletion of this region (del15), while 2030% are caused by a maternal uniparental disomy of chromosome 15 (UPD15). The clinical picture is characterized by neonatal hypotonia and feeding difficulties in early infancy, early development of hyperphagia wit...