Figure Legends
Fig.1 PAX4 gene sequencing of the patient. The
7th exon region carries a heterozygous mutation of
c.487C >t, leading to a variation of R163W in the amino
acid sequence.
Fig.2 PAX4 gene sequencing of the patient‘s father. The 7th
exon region carries a heterozygous mutation of c.487C>t,
leading to a variation of R163W in the amino acid sequence.
Fig.3 PAX4 gene sequencing of the patient’s mother. She
presented with a normal genotype and did not carry the c.487C
>t heterozygous mutation.