Disease: Shprintzen Golberg craniosynostosis
- 22q11.2 deletion syndrome and congenital heart disease
- A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
- A Rare Case Of Shprintzen-Goldberg Syndrome
- Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome
- Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
- Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report
- Exploring the potential association among sleep disturbances, cognitive impairments, and immune activation in 22q11.2 deletion syndrome
- Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes
- Intraoperative absent bilateral medial recti in syndromic craniosynostosis
- Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method
- Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization
- Regional Anesthesia in a Patient With Shprintzen-Goldberg Syndrome: A Case Report
- Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases
- Shprintzen-Goldberg syndrome with plagiocephaly: A case report
- The Clinical Utility of Flexion-extension Cervical Spine MRI in 22q11.2 Deletion Syndrome