Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
Asma Hamad, Charlotte Sherlaw‐Sturrock, Kate Glover, Rachel Salmon, Karen Low, Ramya Nair, Francis H. Sansbury, Lettie E. Rawlins, Jenny Carmichael, Rachael Horton, Sarah Wedderburn, Katherine Edgerley, Rachel Irving, Mary Callaghan, Catherine H Mercer, Ruth McGowan, Leema Robert, Hannah Titheradge, Swati Naik
Topics & Concepts
PenetranceLocus (genetics)GeneticsMedical geneticsAortic dissectionMedicineGenetic heterogeneityGenetic counselingPhenotypeChromosomeBicuspid aortic valveBioinformaticsBiologyPediatricsGeneInternal medicineAortaGenomic variations and chromosomal abnormalitiesWilliams Syndrome ResearchConnective tissue disorders research