A patient with a novel purine ‐rich element binding protein A (PURA) mutation

We report a patient with a novel PURA mutation detected by whole‐exome sequencing. We suggest that PURA abnormality is a recognizable syndrome.

Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki Tags: Case Report Source Type: research