hrp0095p1-308 | Growth and Syndromes | ESPE2022
Bendre Ameya
, Ottosson Lars
, Baroncelli Marta
, Dou Zelong
, Nilsson Ola
Background: Heterozygous Aggrecan (Acan) mutations cause autosomal short stature (ISS) with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (OMIM#165800) in humans. Cartilage matrix deficiency mouse (Acancmd) has a naturally occurring 7 bp micro-deletion in aggrecan gene. Heterozygous Acancmd mice develop postnatal dwarfism with progressing age. However, the underlying cellular and molecular mechanisms causin...