hrp0084p2-468 | Growth | ESPE2015
Sentchordi Lucia
, Barraza Jimena
, Rivera Carlos Ivan
, Marcos M. Victoria
, Sanchez M. Consuelo
, Vallespin Elena
, Pozo Angela del
, Heath Karen E.
Background: Homozygous aggrecan (ACAN) mutations have been described in a few skeletal dysplasias whilst more recently, heterozygous ACAN mutations have been reported in few families presenting with idiopathic short stature with advanced bone maturation and premature growth cessation.Case presentation: We describe two novel heterozygous ACAN stop mutations, detected using a skeletal dysplasia NGS panel and confirmed by Sanger sequencing...