Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

doi:10.1016/j.pediatrneurol.2024.03.008

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Article

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Pediatric neurology - 1 Jun 2024

Palma-Milla Carmen, Prat-Planas Aina, Soengas-Gonda Emma, Centeno-Pla Mónica, Sánchez-Pozo Jaime, Lazaro-Rodriguez Irene, Quesada-Espinosa Juan F, Arteche-Lopez Ana, Olival Jonathan, Pacio-Miguez Marta, Palomares-Bralo María, Santos-Simarro Fernando, Cancho-Candela Ramón, Vázquez-López María, Seidel Veronica, Martinez-Monseny Antonio F, Casas-Alba Didac, Grinberg Daniel, Balcells Susanna, Serrano Mercedes, Rabionet Raquel, Martin Miguel A, Urreizti Roser

Abstract excerpt

BACKGROUND: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. METHODS: We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one. RESULTS: Phenotypic analysis...

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PMID: 38569228
DOI: 10.1016/j.pediatrneurol.2024.03.008

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