Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms

Conclusions
There is a wide spectrum of the clinical phenotype of LS. Some of the features may be partly driven by the loss of function of OCRL in the hypothalamus and the pituitary.

Source: Journal of Medical Genetics - November 22, 2022 Category: Genetics & Stem Cells Authors: Sena, C., Iannello, G., Skowronski, A. A., Dannheim, K., Cheung, L., Agrawal, P. B., Hirschhorn, J. N., Zeitler, P., LeDuc, C. A., Stratigopoulos, G., Thaker, V. V. Tags: Phenotypes Source Type: research