ISSN 1662-4009 (online)

ey0016.4-2 | Important for Clinical Practice | ESPEYB16

4.2. Improved mental and motor development during 3 years of GH treatment in very young children with Prader-Willi syndrome

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...