MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

• Main Authors: André Costa e Silva (Author), Inês Maio (Author), Cecília Martins (Author), Sara Pires (Author), Cláudia Gonçalves (Author)
• Format: Book
• Published: Termedia Publishing House, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Children suffering from intellectual disability, dysmorphic features and organ-specific developmental abnormalities should undergo genetic testing. Entities such as X fragile syndrome should be investigated. If we add obesity to the "equation", Prader-Willi and Bardet-Biedl are thus far th...