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Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the CHD7 gene; however, variants are distributed throughout the gene and most cases are due to de n...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9947648/ https://www.ncbi.nlm.nih.gov/pubmed/36845402 http://dx.doi.org/10.3389/fgene.2023.1082100 |