ACAN Pathogenic Variant as a Cause of Short Stature

• Hoofdauteurs: Diana Reis Monteiro (Auteur), Miguel Leão (Auteur), Maria Adriana Rangel (Auteur), Rosa Arménia Campos (Auteur), Ana Luísa Leite (Auteur)
• Formaat: Boek
• Gepubliceerd in: Publicaciones Permanyer, 2023-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Pathogenic variants of the aggrecan (ACAN) gene have been associated with a wide spectrum of growth modifications ranging from idiopathic short stature to severe skeletal dysplasia. We reported a case of an 8-year-old male observed in a pediatric endocrinology consultation for short stature (-3.46 s...