hrp0082p3-d1-821 | Growth | ESPE2014
, Lu Wei
, Pei Zhou
, Zheng Zhangqian
Background: PraderWilli syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11q13 region and characterized by hypotonia, a poor suck, hypogonadism, GH deficiency(GHD), learning and behavioural problems. GH acts as a ligand for the GH receptor (GHR) coded by a gene polymorphism for an exon-s deletion (d3) seen in about 50% of Caucasians and associated with an increased response to GH (GH) therapy.<p class="abstext"...