Disease: Greig cephalopolysyndactyly syndrome
- A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote
- A novel <em>GLI3</em> frameshift mutation in a Chinese pedigree with polydactyly: A case report
- Conclusion of diagnostic odysseys due to inversions disrupting <em>GLI3</em> and <em>FBN1</em>
- De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities
- Differential diagnosis of syndromic craniosynostosis: a case series
- GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third
- Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern]
- Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
- Greig Cephalopolysyndactyly Syndrome
- Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report
- Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3
- Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly
- Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly
- Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome
- Polydactyly
- Polyhydramnios associated with rare genetic syndromes: two case reports
- Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it
- The association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosis
- Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons
- Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
- Variants in <em>GLI3</em> Cause Greig Cephalopolysyndactyly Syndrome