Autor: Pattani, N., Page, A., Barber, J. L., Del Rey Jimenez, J. C., Alsters, S., Albanese, A., Mansour, S.

BackgroundPathogenic ACAN variants (‘aggrecanopathies’) are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, ACAN-related disorder is reportedly associated with advanc…