A Novel Heterozygous Mutation of the <i>COL4A3</i> Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

<div>(a) Pedigree of a family with the COL4A3 mutation. Affected family members are shown in black symbols. The arrow identifies the proband in the family. (b–f) Audiogram of the affected members in the family. The red mark represents the right ear, and the blue mark represents the left ear. (g) Result of auditory brainstem response in III-1. The results show that the child’s hearing is normal.</div>

Disease Markers

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Figure 1

Figure 1: A Novel Heterozygous Mutation of the <i>COL4A3</i> Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family 

Figure 1 | A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family 