A splice-site variant in ANKRD11 associated with classical KBG syndrome

MeSH terms

• Abnormalities, Multiple / diagnosis*
• Abnormalities, Multiple / genetics*
• Alleles
• Bone Diseases, Developmental / diagnosis*
• Bone Diseases, Developmental / genetics*
• DNA Mutational Analysis
• Facies
• Genetic Association Studies*
• Genetic Variation*
• Genotype
• Humans
• Intellectual Disability / diagnosis*
• Intellectual Disability / genetics*
• Male
• Mutation
• Phenotype*
• RNA Splice Sites*
• Repressor Proteins / genetics*
• Severity of Illness Index
• Tooth Abnormalities / diagnosis*
• Tooth Abnormalities / genetics*
• Young Adult