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Article

GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.

Clinical genetics - 1 Dec 2021

Sczakiel Henrike Lisa, Hülsemann Wiebke, Holtgrewe Manuel, Abad-Perez Angela Teresa, Elsner Jonas, Schwartzmann Sarina, Horn Denise, Spielmann Malte, Mundlos Stefan, Mensah Martin Atta

Abstract excerpt

Loss of function variants of GLI3 are associated with a variety of forms of polysyndactyly: Pallister-Hall syndrome (PHS), Greig-Cephalopolysyndactyly syndrome (GCPS), and isolated polysyndactyly (IPD). Variants affecting the N-terminal and C-terminal thirds of the GLI3 protein have been associated with GCPS, those within the central third with PHS. Cases of IPD have been attributed to variants affecting the...

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PMID: 34482537
DOI: 10.1111/cge.14059

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GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.PMID 34482537Read ↗

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