Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India

Conclusion
This large cohort from India contributes to the increasing knowledge of clinical and molecular findings in these rare ‘Golgipathies’.

Source: Journal of Medical Genetics - January 24, 2023 Category: Genetics & Stem Cells Authors: Varshney, K., Narayanachar, S. G., Girisha, K. M., Bhavani, G. S., Narayanan, D., Phadke, S., Nampoothiri, S., Udupi, G. A., Raghupathy, P., Nair, M., Geetha, T. S., Bhat, M. Tags: Phenotypes Source Type: research