Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm

Keyphrases

• Intracranial Aneurysm 100%
• Supravalvular Aortic Stenosis 100%
• Family History 33%
• Autosomal Dominant 33%
• Arterial Stenosis 33%
• Sudden Death 33%
• Inheritance Pattern 33%
• Dominant Pattern 33%
• Affected Family Members 33%
• Three-generation Family 33%
• Genetic Counseling 33%
• Frameshift mutation 33%
• Exon 12 33%
• Pathogenic Germline mutation 33%

Biochemistry, Genetics and Molecular Biology

• Exon 100%
• Autosomal Dominant Inheritance 100%
• Germline Mutation 100%
• Genetic Counseling 100%
• Frameshift Mutation 100%

Medicine and Dentistry

• Intracranial Aneurysm 100%
• Supravalvular Aortic Stenosis 100%
• Family History 33%
• Artery Occlusion 33%
• Autosomal Dominant Inheritance 33%
• Exon 33%
• Germline Mutation 33%
• Genetic Counseling 33%
• Sudden Death 33%
• Frameshift Mutation 33%