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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...

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Detalles Bibliográficos
Autores principales: Lippa, Natalie C., Barua, Subit, Aggarwal, Vimla, Pereira, Elaine, Bain, Jennifer M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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