Publicados dois artigos científicos no âmbito deste projecto

14 february, 2023≈ 2 min read

Inseridos no âmbito do presente projecto, foram publicados os dois artigos científicos seguintes:

Selvaraj, S., Rodrigues, D., Krishnamoorthy, N., Fakhro, K. A., Saraiva, L. R., Lemos, M. C.
(2022). Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation
in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. Journal of personalized
medicine, 12(1), 118. https://doi.org/10.3390/jpm12010118

Gonçalves, C. I., Carriço, J., Bastos, M., Lemos, M. C. (2022). Disorder of Sex Development
Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review
of 70 Different HSD17B3 Mutations Reported in 239 Patients. International journal of
molecular sciences, 23(17), 10026. https://doi.org/10.3390/ijms231710026