Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Lehman, N

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. [electronic resource] - Clinical genetics Sep 2017 - 298-305 p. digital

Publication Type: Journal Article

1399-0004

10.1111/cge.13010 doi


Abnormalities, Multiple--diagnosis
Adolescent
Alleles
Child
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Face--abnormalities
Female
Gene Order
Genetic Association Studies
Genetic Loci
Hematologic Diseases--diagnosis
Humans
Intelligence
Male
Mutation
Neoplasm Proteins--genetics
Neuropsychological Tests
Phenotype
Vestibular Diseases--diagnosis