R. J. Havelaar

A new conditional mouse model for Cre-mediated restoration of Hprt1 expression during brain development

A central challenge in genetic neurodevelopmental disorders is determining the developmental windows, brain regions, and cell lineages that are affected by gene dysfunction, and whether the resulting pathology remains reversible. The defined genotype–phenotype relationship in Lesch–Nyhan disease (LND), a monogenic diso...