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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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Principais autores: Hoang H. Nguyen, Krishna Kishore Umapathi, Richard Dineen, Raymond Morales, Mindy H. Li
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2020-09-01
Serier:Cardiogenetics
Fag:
3p deletion
GPD1L gene
Brugada syndrome.
Online adgang:https://www.pagepressjournals.org/index.php/cardiogen/article/view/9193
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