Publications by authors named "Juliette Aubin-Courjault"
Article Synopsis
- KBG syndrome is an autosomal dominant genetic disorder characterized by neurodevelopmental issues, intellectual disability, behavioral problems, epilepsy, and distinct physical features.
- This study aimed to analyze the diagnostic pathway for individuals with KBG syndrome, focusing on the healthcare professionals involved and the reasons for referrals.
- Results indicated that pediatricians were the primary referrers for genetic consultation, mainly due to concerns about learning delays or intellectual disabilities in children.
