ACAN Pathogenic Variant as a Cause of Short Stature

• Main Authors: Diana Reis Monteiro (Author), Miguel Leão (Author), Maria Adriana Rangel (Author), Rosa Arménia Campos (Author), Ana Luísa Leite (Author)
• Format: Book
• Published: Publicaciones Permanyer, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...