A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.
De novo CCNK missense variant associated with mild intellectual disability, subtle dysmorphism (hypertelorism, depressed/broad nasal bridge), and ventriculomegaly. This case broadens the clinical spectrum of CCNK-related neurodevelopmental disease and supports cyclin K as a disease gene; imaging and...
| Autores: | , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2026 |
| País: | España |
| Institución: | Fundació Sant Joan de Déu |
| Repositorio: | r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| OAI Identifier: | oai:fsjd.fundanetsuite.com:p29258 |
| Acceso en línea: | https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=29258 |
| Access Level: | acceso abierto |
| Palabra clave: | CCNK genotype–phenotype variability intellectual disability ventriculomegaly whole-exome sequencing |
| Sumario: | De novo CCNK missense variant associated with mild intellectual disability, subtle dysmorphism (hypertelorism, depressed/broad nasal bridge), and ventriculomegaly. This case broadens the clinical spectrum of CCNK-related neurodevelopmental disease and supports cyclin K as a disease gene; imaging and phenotype suggest a milder presentation compared with deletions. |
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