| Autor: |
Alghaith, Fahad A., Arts, Heleen H., Plourde, Francois J., Boswall, Andrew, Gulati, Partima, McNeely, P. Daniel, Acott, Philip D., Wong, Kenny K., Dyack, Sarah |
| Zdroj: |
American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p554-558, 5p |
| Abstrakt: |
Congenital heart defect (CHD) is a birth defect that affects the structure of the heart. Although CHD is often multifactorial, it can also be inherited as part of a Mendelian disorder such as in congenital heart defect and ectodermal dysplasia (CHDED). This disorder is caused by de novo variants in PRKD1. Here, we describe a patient with a novel de novo variant of PRKD1 with phenotypic features consistent with CHDED. Previously unreported features were noted including high intracranial pressure (ICP), partial anomalous pulmonary venous return (PAPVR), and bifid uvula. We suggest that these features may be associated with CHDED. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
Plný text