关键词: ABCC9 Cantu syndrome aortic aneurysm craniosynostosis familial mutation
Mesh : Adult Amino Acid Sequence Aortic Aneurysm / diagnosis genetics Aortic Aneurysm, Thoracic / diagnostic imaging pathology Base Sequence Brain / pathology Cardiomegaly / diagnosis diagnostic imaging genetics Child, Preschool Craniosynostoses / diagnosis genetics DNA Mutational Analysis Facies Genetic Diseases, X-Linked / diagnosis genetics Humans Hypertrichosis / diagnosis genetics Magnetic Resonance Imaging Male Mutation Mutation, Missense Osteochondrodysplasias / diagnosis genetics Phenotype Radiography Sulfonylurea Receptors / chemistry genetics Syndrome
来 源: DOI:10.1002/ajmg.a.36228 PDF(Sci-hub)