hrp0095p1-420 | Bone, Growth Plate and Mineral Metabolism | ESPE2022
, Toiviainen-Salo Sanna
, Lipsanen-Nyman Marita
, Mäkitie Outi
Background: Mulibrey nanism (MUL) is a monogenic growth disorder with typical craniofacial features, perimyocardial heart disease, infertility and predisposition to tumors. MUL is caused by mutations in the TRIM37 gene encoding TRIM37 protein possessing E3 ubiquitin-ligase activity.Objective and hypotheses: MUL patients have pre- and postnatal growth failure with an average birth length SDS of -3.1 and birth weight SDS o...