ea0057032 | Small stature with osteochondritis: a clinical report of a family with ACAN mutation and review of the literature | BES2018
, Moortgat S
, Mouraux T
, Beckers D
Introduction: Thanks to advances in genetics, idiopatic short stature have, more frequently, a molecular diagnosis. Mutations in the ACAN gene are responsible for different forms of syndromic short stature but were also described in association with idiopathic short stature or with joint damage and advanced bone age. Transmission is autosomal dominant. Less than 25 mutations have been described since 2010 and are localized all along the protein. The ACAN gene...