Genetic & Genomic MedicinemedRxivPreprint
Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum
Aline Lourenço Petrin, Ligiane Alves Machado‐Paula, Ashley Hinkle…·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.
DOI 10.1101/2024.02.07.24301824