Disease: Craniostenosis with congenital heart disease mental retardation
- A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability
- A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
- CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
- Co-occurrence of Carpenter syndrome and double outlet right ventricle
- Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report
- DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients
- Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome
- Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review
- Polydactyly
- Prader-Willi Syndrome Coincident with DiGeorge Syndrome
- Shprintzen-Goldberg syndrome with plagiocephaly: A case report
- Shprintzen-Goldberg Syndrome: A Rare Disorder
- Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients
- The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
- Thoraco-abdominal aortic aneurysm rupture in a patient with Shprintzen-Goldberg syndrome