Expanding the phenotypic spectrum of TRAF7-related CAFDADD: report of eleven new cases and literature review.

We present a detailed description of eleven new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one. Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects.

Source: Pediatric Neurology - March 13, 2024 Category: Neurology Authors: Carmen Palma-Milla, Aina Prat-Planas, Emma Soengas-Gonda, M ónica Centeno-Pla, Jaime Sánchez-Pozo, Irene Lazaro-Rodriguez, Juan F. Quesada-Espinosa, Ana Arteche-Lopez, Jonathan Olival, Marta Pacio-Miguez, María Palomares-Bralo, Fernando Santos-Simarro, Tags: Research Paper Source Type: research