| Autor: |
Maines, Evelina, Rizzardi, Caterina, Bolognani, Marco, Soli, Fiorenza, Piccoli, Giovanni, Soffiati, Massimo, Franceschi, Roberto |
| Předmět: |
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| Zdroj: |
Gene Expression (1052-2166); Apr-Jun2024, Vol. 23 Issue 2, p153-155, 3p |
| Abstrakt: |
This document discusses the challenges and management of prenatal counseling for DGUOK deficiency, a mitochondrial disease. The authors emphasize the importance of accurate information and strong support for parents and families following a prenatal diagnosis. They highlight the need for a multidisciplinary approach involving various healthcare professionals. The document also mentions the lack of clear genotype-phenotype correlation in patients with pathogenic missense variants in the DGUOK gene. Overall, the authors stress the need for more research and comprehensive information to guide healthcare providers in counseling families about DGUOK deficiency. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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