Associated Papers
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Bouhatous YM et al.
Journal of Medical Genetics, 2025
40562530 (PubMed )
Supplement: jmg-62-9-s001.xlsx › Feuil1
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
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.
Fusco C et al.
Journal of Human Genetics, 2024
Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies.
Takeda N et al.
Circulation. Genomic and Precision Medicine, 2021
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