Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. [electronic resource]
Producer: 20170630Description: 230-7 p. digitalISSN:- 1399-0004
- Abnormalities, Multiple -- diagnosis
- Adolescent
- Child
- Child, Preschool
- Comparative Genomic Hybridization
- Czech Republic
- DNA-Binding Proteins -- genetics
- Face -- abnormalities
- Female
- Genome, Human
- Hematologic Diseases -- diagnosis
- Histone Demethylases -- genetics
- Humans
- Infant
- Male
- Neoplasm Proteins -- genetics
- Nuclear Proteins -- genetics
- Phenotype
- Vestibular Diseases -- diagnosis
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Publication Type: Journal Article
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