Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Evelina SiavrienėVioleta MikštienėDarius RadzevičiusŽivilė MaldžienėTautvydas RančelisGunda PetraitytėGiedrė TamulytėIngrida KavaliauskienėLaurynas ŠarkinasAlgirdas UtkusVaidutis KučinskasEglė PreikšaitienėPublished in: Molecular genetics & genomic medicine (2019)
Despite the evidence provided, pathogenic variants in the GLI3 do not always definitely correlate with syndromic or nonsyndromic clinical phenotypes associated with this gene. For this reason, further transcriptomic and proteomic evaluation could be suggested.