Clinical and Genetic Spectrum of Fanconi Anaemia in Australia and New Zealand.
Hannah Fluhler, Elissah Granger, Michael F. Sharp, Caitlin Harris, Mark J. McKinley, Sarbjit Riyat, Christine Krieg, Andrew J. Deans, Chris Fraser, Siobhan F. Cross, Tina L. Carter, Lisa C. Worgan, Adam Nelson, Lucy C. Fox, Jillian K. Nicholl, , Wayne Crismani
This study investigates the clinical and genetic spectrum of Fanconi anaemia in Australia and New Zealand, finding a correlation between testing rates and case detection, and highlighting increased susceptibility to HNSCC.
medRxiv · Oct 21, 2024 · PreprintGenetic & Genomic Medicine