ey0016.4-2 | Important for Clinical Practice | ESPEYB16
SH Donze
, L Damen
, EF Mahabier
, ACS Hokken-Koelega
To read the full abstract: J Clin Endocrinol Metab 2018 pii: jc.2018-00687.Prader-Willi syndrome (PWS) is a rare genetic disorder secondary to absent expression of the paternal active genes in the PWS critical region of chromosome 15. 70% of patients have a microdeletion, 28% a uniparental disomy (UPD) and 1% an imprinting defect. PWS has an estimated incidence rate of 1 in 25,000 live b...