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Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome

Content Provider	Scilit
Author	Tanteles, George A. Michaelidou, Sofia Loukianou, Eleni Christophidou-Anastasiadou, Violetta Kleopa, Kleopas A.
Copyright Year	2015
Description	Journal: Clinical dysmorphology Greig cephalopolysyndactyly syndrome (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including hypertelorism and macrocephaly. Although GLI3 shows considerable pleiotropy, it is the only gene known to cause this particular phenotype. We report on a patient with GCPS caused by a novel GLI3 mutation. In addition, the patient had asymmetry of the calf muscles, most likely secondary to chronic hypertrophic radiculopathy. The GLI3 mutation identified by targeted Sanger sequencing analysis in our patient is predicted to lead to premature termination of translation. This is the first report of a Cypriot patient with a GCPS because of a novel GLI3 mutation. The report provides additional evidence in support of the rich variability in phenotypic expression, the mutational heterogeneity and ethnic diversity associated with this rare condition.
Related Links	https://zenodo.org/record/2587600/files/tanteles2015.pdf
Ending Page	105
Page Count	4
Starting Page	102
ISSN	09628827
e-ISSN	14735717
DOI	10.1097/mcd.0000000000000074
Journal	Clinical dysmorphology
Issue Number	3
Volume Number	24
Language	English
Publisher	Ovid Technologies (Wolters Kluwer Health)
Publisher Date	2015-07-01
Access Restriction	Open
Subject Keyword	Journal: Clinical dysmorphology Gli3 Mutation Cypriot Patient Greig Cephalopolysyndactyly Syndrome
Content Type	Text
Resource Type	Article
Subject	Anatomy Pathology and Forensic Medicine Genetics (clinical) Pediatrics, Perinatology and Child Health

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