Article: Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Diagnostics (Basel, Switzerland)
2024 Volume 14, Issue 8
Abstract: Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a ... ...
Abstract | Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the |
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Language | English |
Publishing date | 2024-04-19 |
Publishing country | Switzerland |
Document type | Journal Article |
ZDB-ID | 2662336-5 |
ISSN | 2075-4418 |
ISSN | 2075-4418 |
DOI | 10.3390/diagnostics14080846 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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