Litcius/Paper detail

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

2023European Journal of Medical Genetics15 citationsDOIOpen Access PDF

Topics & Concepts

PenetranceLocus (genetics)GeneticsMedical geneticsAortic dissectionMedicineGenetic heterogeneityGenetic counselingPhenotypeChromosomeBicuspid aortic valveBioinformaticsBiologyPediatricsGeneInternal medicineAortaGenomic variations and chromosomal abnormalitiesWilliams Syndrome ResearchConnective tissue disorders research