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A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
BACKGROUND: Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties and mild intellectual disabilit...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8447699/ https://www.ncbi.nlm.nih.gov/pubmed/34530748 http://dx.doi.org/10.1186/s12883-021-02380-9 |