Article
The KDM6B mutation: Phenotype and clinical characteristics-Report of a case.
Revista de psiquiatria y salud mental - 1 Jan 2000
Insa Pineda Inmaculada, Gómez González Cristina Luz
Abstract excerpt
INTRODUCTION: Alterations in the genes of lysine methylation as Lysine-specific demethylase 6B (KDM6B) have been associated with multiple neurodevelopmental disorders. Until now, there are few cases in the literature attributed to KDM6B mutations. This gap may be due to the fact that the exome sequencing technique is still being implemented in routine clinical practice. MATERIAL AND METHODS: A case is presented...
Topics
- Attention Deficit Disorder with Hyperactivity
- Humans
- Jumonji Domain-Containing Histone Demethylases
- Lysine
- Mutation
- Neurodevelopmental Disorders
- Phenotype