radioulnar synostosispectus excavatum
…Background During genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhi…
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This disease is selected. Its supporting articles are shown below.
…Background During genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhi…
…other AUTS2 syndrome features. Notably, phenotypic overlap with Tsukahara syndrome (OMIM 603438) was observed, suggesting potential diagnostic con…