This Month in The Journal

Robinow syndrome, a rare skeletal dysplasia, has proven an especially difficult disorder to diagnose molecularly. Much of this challenge stems from locus heterogeneity that leads to an incomplete understanding of disease pathomechanism. In this issue, White et  al. use a combination of whole-exome and Sanger sequencing to explore the genetic cause of clinically suspected Robinow syndrome in over 20 individuals. The authors identify causative mutations in NXN and FZD2 in addition to those in previously reported genes DVL1, DVL3, and WNT5A.

Source: The American Journal of Human Genetics - January 4, 2018 Category: Genetics & Stem Cells Authors: Sarah Ratzel, Sara B. Cullinan Tags: Editors' Corner Source Type: research