nail-patella syndrome
The clinical diagnosis of nail-patella syndrome was confirmed by demonstrating a splice mutation in the intron 5 (750 + 1 G>A) of the LMX1B gene.
The clinical diagnosis of <span class="disease" id="19147669-4-26-47">nail-patella syndrome</span> was confirmed by demonstrating a splice mutation in the intron 5 (750 + 1 G&gt;A) of the <span class="gene" id="19147669-4-134-139">LMX1B</span> gene.