Case report demonstrates incomplete penetrance of LMX1B mutation in a girl with nail–patella syndrome, emphasizing follow-up.
We report a 9-year-old girl with nail–patella syndrome caused by a heterozygous nonsense LMX1B mutation. She presented with the classic triad of nail hypoplasia, small patella and iliac horns. Her father carried the same mutation with normal renal function, illustrating incomplete penetrance and justifying long-term follow-up.
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