Abstract
Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.
| Original language | English |
|---|---|
| Pages (from-to) | 515-523 |
| Number of pages | 9 |
| Journal | Clinical calcium |
| Volume | 26 |
| Issue number | 4 |
| State | Published - 1 Apr 2016 |
| Externally published | Yes |