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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Bibliographic Details
Main Authors: Małgorzata Rodak, Mariola Jonderko, Patrycja Rozwadowska, Magdalena Machnikowska-Sokołowska, Justyna Paprocka
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Children
Subjects:
Online Access:https://www.mdpi.com/2227-9067/9/12/1806