Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains
Esther Cross, Philippa J. Duncan‐Flavell, Rachel J. Howarth, Richard O. Crooks, N. Simon Thomas, David J. Bunyan
Topics & Concepts
Missense mutationPAX6GeneticsAniridiaBiologyProbandFrameshift mutationPhenotypeHomeoboxGeneMutationTranscription factorDevelopmental Biology and Gene RegulationCell Adhesion Molecules ResearchCongenital heart defects research