Article

Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review

2023-12-14

Abstract excerpt

<h4>ABSTRACT</h4> TRAF7 syndrome, a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. We present a detailed description of eleven new TRAF7 syndrome cases, featuring eight distinct variants, including a novel one. Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinic...

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Literature Corpus work: 77009d8e-5746-58e8-97c2-c0e38161f58e
DOI: 10.1101/2023.12.13.23299272

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