1.
Michelen-Gómez E, Guardiola-Dávila G, Izquierdo NJ. Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report. PRHSJ [Internet]. 2021 Sep. 22 [cited 2025 Nov. 16];40(3):151-4. Available from: https://prhsj.rcm.upr.edu/index.php/prhsj/article/view/2195