Artikel: An X-linked
2022 Band 11, Heft 11, Seite(n) 1852–1863
Abstract: ... of : Results: We identified a pathogenic mutation in the X-linked : Conclusions: These findings suggest that ...
| Abstract | Background: Congenital heart disease (CHD) is the most common birth defect and is often accompanied by neurodevelopmental disabilities (NDD) which increase the associated mortality. Plexin families are known to play a key role in the development of heart and the occurrence of neurodevelopmental anomalies. However, there has been no report of Methods: We performed whole-exome sequencing (WES) on a proband with CHD with neurodevelopmental anomalies and his family members. Targeted sequencing, conservation analysis, AlphaFold, and PyRosetta were performed to identify more pathogenic mutations of Results: We identified a pathogenic mutation in the X-linked Conclusions: These findings suggest that |
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| Sprache | Englisch |
| Erscheinungsdatum | 2022-12-05 |
| Erscheinungsland | China |
| Dokumenttyp | Journal Article |
| ZDB-ID | 2901309-4 |
| ISSN | 2224-4344 ; 2224-4344 ; 2224-4336 |
| ISSN (online) | 2224-4344 |
| ISSN | 2224-4344 ; 2224-4336 |
| DOI | 10.21037/tp-22-556 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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