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....
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI AG
2020-09-01
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| Col·lecció: | Cardiogenetics |
| Matèries: | |
| Accés en línia: | https://www.pagepressjournals.org/index.php/cardiogen/article/view/9193 |
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