Associated Papers
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.
Sjøstrøm E et al.
Clinical Genetics, 2025
Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.
Chatelain C et al.
European Journal of Medical Genetics, 2025
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Arnaud P et al.
Human Genetics, 2020
A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability.
Zhang L et al.
American Journal of Medical Genetics. Part A, 2019
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