hrp0095rfc7.5 | Growth and Syndromes | ESPE2022
Giabicani Eloïse
, Pham Aurélie
, Sélénou Céline
, Sobrier Marie-Laure
, Linglart Agnès
, Poliard Anne
, Chaussain Catherine
, Netchine Irène
Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting disorders are a set of rare diseases that mainly affect growth and metabolism from birth to adulthood. These disorders are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. Moreover, patients with imprinting disorders may present overlapping clinical features that can b...