Does exome sequencing identify a novel mutation in GJA8 associated with inherited cataract in a Chinese family?
The c.433G > T (p.G145W) mutation in the GJA8 gene was first reported to our best knowledge. The results of our study would further broaden the mutation spectrum of GJA8 associated with congenital cataract.
The 3D CT humeral retroversion angle was found to be underestimated by the 2D CT retroversion angle and overestimated by the bicipital forearm angle obtained by the indirect ultrasound, although a previously observed relationship between the 2D CT retroversion and bicipital forearm angles was confirmed.