A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.

Bekircan-Kurt, Can Ebru

A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures. [electronic resource] - The Turkish journal of pediatrics 2016 - 97-100 p. digital

Publication Type: Case Reports; Journal Article

2791-6421

10.24953/turkjped.2016.01.015 doi


Abnormalities, Multiple--genetics
Adolescent
DNA-Binding Proteins--genetics
Electroencephalography
Epilepsy--drug therapy
Face--abnormalities
Hematologic Diseases--genetics
Heterozygote
Humans
Male
Mutation
Neoplasm Proteins--genetics
Vestibular Diseases--genetics