Inherited interstitial deletion of 3p22.3—p23 involving <em>GPD1L</em> gene
We report the first case of a 294 kb loss, notable for including the entirety of GPD1L, on chromosome 3p22.3—p24 in a 3-year-old girl with multiple congenital anomalies including absent left foot, single umbilical artery, bilateral vesico-ureteral reflux, rectovaginal fistula, and imperforate anus....
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
MDPI AG
2020-09-01
|
| Schriftenreihe: | Cardiogenetics |
| Schlagworte: | |
| Online-Zugang: | https://www.pagepressjournals.org/index.php/cardiogen/article/view/9193 |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|