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

• المؤلفون الرئيسيون: André Costa e Silva (مؤلف), Inês Maio (مؤلف), Cecília Martins (مؤلف), Sara Pires (مؤلف), Cláudia Gonçalves (مؤلف)
• التنسيق: كتاب
• منشور في: Termedia Publishing House, 2024-06-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...