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
Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome.
Srivastava P et al.
Molecular Syndromology, 2021
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Arnaud P et al.
Human Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
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
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
Au PY et al.
American Journal of Medical Genetics. Part A, 2014
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Doyle AJ et al.
Nature Genetics, 2012
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