Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants

Conclusion
PL associated with a renal anomaly suggests a CELSR1-related cause.

Source: Journal of Medical Genetics - November 27, 2023 Category: Genetics & Stem Cells Authors: Alpaslan, M., Mestre-Godin, S., Lay, A., Giacalone, G., Helaers, R., Adham, S., Kovacsik, H., Guillemard, S., Mercier, E., Boon, L., Revencu, N., Brouillard, P., Quere, I., Vikkula, M. Tags: Genotype-phenotype correlations Source Type: research