A novel homozygous frameshift mutation in the <i>WDR73</i> gene causes Galloway–Mowat syndrome in a Chinese consanguineous family

We identified a novel homozygous frameshift mutation (c.972_973dupCT) in the WDR73 gene, causing AR GAMOS1 in a Chinese consanguineous family. The results are essential for further confirming the pathogenicity of WDR73 gene mutations and expanding the manifestation spectrum of GAMOS1.