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
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D et al.
European Journal of Human Genetics : Ejhg, 2015
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V et al.
American Journal of Human Genetics, 2012
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