Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

biorxiv（2019）

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摘要

Transcriptome analyses as well as the partial phenotypic overlap of syndromes associated with and variants suggest that ALF transcription factors are not redundant in contrast to what was previously suggested

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关键词

mesomelic dysplasia,horseshoe kidney,intellectual disability,AFF3,AFF4

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