Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum
Aline Lourenço Petrin, Ligiane Alves Machado‐Paula, Ashley Hinkle, L Hovey, Waheed A. Awotoye, Michael S. Chimenti, Benjamin W. Darbro, Lucilene Arilho Ribeiro, Shareef M. Dabdoub, Tabitha K. Peter, Patrick John Breheny, Jeffrey Clark Murray, Eric Van Otterloo, Shankar Rengasamy Venugopalan, Lina M. Moreno Uribe
The paper identifies rare mutations in SIX1, PDGFRA, and KDR/VEGFR2 associated with OAVS phenotypes through whole genome sequencing and statistical analysis of a family.
medRxiv · Feb 7, 2024 · PreprintGenetic & Genomic Medicine