Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty

MeSH terms

• Aortic Stenosis, Supravalvular / complications*
• Gene Deletion*
• Humans
• Learning Disabilities / complications*
• Male
• Nucleic Acid Amplification Techniques*
• Phenotype
• Williams Syndrome / complications*
• Williams Syndrome / genetics*
• Young Adult