Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome
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DOI: 10.3390/ijms23042075
Abstract: Small patella syndrome (SPS) is a rare autosomal dominant disorder caused by mutations in TBX4 gene which encodes a transcription factor of FGF10. However, how TBX4 mutations result in SPS is poorly understood. Here, a… read more here.
Keywords: tbx4; novel tbx4; small patella; patella syndrome ... See more keywords