CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male

CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to be approximately 1: 40,000–60,000 live births. So...

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Detalles Bibliográficos
Autores principales: Rodak, Małgorzata, Jonderko, Mariola, Rozwadowska, Patrycja, Machnikowska-Sokołowska, Magdalena, Paprocka, Justyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776588/
https://www.ncbi.nlm.nih.gov/pubmed/36553250
http://dx.doi.org/10.3390/children9121806

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776588/
https://www.ncbi.nlm.nih.gov/pubmed/36553250
http://dx.doi.org/10.3390/children9121806

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