@cpschaaf.bsky.social & his team developed two new mouse models of the Bosch-Boonstra-Schaad optic atrophy syndrome, carrying patient-specific Nr2f1 variants and capturing key aspects of the #BBSOAS, offering insights into genotype-phenotype links underlying the syndrome.
#raredisease
bit.ly/4rsjQVC

Our BBSOAS Guide is Now Available in Spanish! 🇪🇸✨

Thank you to Dr. Álvaro López, HGU Santa Lucía, Cartagena for his incredible support in translating these vital resources! Find the guide here: bit.ly/SíndromeBBSOAS

#BBSOAS #GenéticaRara #NR2F1 #ConcienciaciónGenética