Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p123 | (1) | ICCBH2019

Odontochondrodysplasia in association with a TRIP11 mutation

Sheridan Sabrina , McCarron Laura , Donnell Gillian O , McDonnell Ciara

Background: Pathogenic mutations in thyroid hormone receptor interactor 11 (TRIP11) have previously been associated with achondrogenesis1A, a lethal autosomal recessive skeletal dysplasia. Recent findings have suggested that hypomorphic mutations of TRIP11 result in odontochondrodysplasia (ODCD), a rare syndrome associated with spondylometaphyseal dysplasia and dentinogenesis imperfecta.Presenting problem: This is the case of a term female born to non-co...