Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report

Figure 1 The child had yellow, dry skin with joint contracture and could not straighten her limbs.

Figure 2 Splicing mutations found in the neonate. The DNA chromatograms highlighted the mutations. A: c.96+1G>C in the proband; B: c.96+1G>C in the father; C: No abnormality in the mother.

Figure 3 Frameshift mutations found in the neonate. The DNA chromatograms highlighted the mutations. A: c.242delT in the proband; B: No abnormality in the father; C: c.242delT in the mother.