Greig Cephalopolysyndactyly Syndrome Latest Advances

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: June 05, 2020

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Journal: Journal of medical genetics

Published: February 24, 2020

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Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.

A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report.

A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report.

Polyhydramnios associated with rare genetic syndromes: two case reports.

Polyhydramnios associated with rare genetic syndromes: two case reports.

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.

Differential diagnosis of syndromic craniosynostosis: a case series.

Differential diagnosis of syndromic craniosynostosis: a case series.

Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.

Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.

The association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosis.

The association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosis.

Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.

Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.

Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.

Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.