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
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34429528 (PubMed )
Supplement: EMS138012-supplement-Table_S3.xlsx › Sheet1
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
Arnaud P et al.
Human Genetics, 2020
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects.
Saito T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2017
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