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BackgroundLoss of the DNA‐binding activity of a transcription factor is detrimental to its function in responsive gene regulation. We diagnosed a Taiwanese family with nail‐patella syndrome (NPS) whose members inherited the mutated LMX1b transcription factor with no DNA‐binding homeodomain. The loss‐of‐function variants cause haploinsufficiency of LMX1b, leading to the clinical manifestation of NPS...
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