Does a missense mutation S228P in the CRYBB1 gene cause autosomal dominant congenital cataract?
This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.
VAT can be accurately estimated by DXA, in patients with PWS, and might contribute to the assessment of the metabolic risk.