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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clin Genet. 2017 Sep; 92(3):298-305.
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subject areas
Abnormalities, Multiple
Adolescent
Alleles
Child
DNA Mutational Analysis
DNA-Binding Proteins
Face
Female
Gene Order
Genetic Association Studies
Genetic Loci
Hematologic Diseases
Humans
Intelligence
Male
Mutation
Neoplasm Proteins
Neuropsychological Tests
Phenotype
Vestibular Diseases
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NORM LEHMAN