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  • Purpose: Somatic variants in tumor necrosis factor receptor-associated factor 7 TRAF7 cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts.
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Helen sexton gaithersburg md in West Midlands

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