Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family

ConclusionDespite the evidence provided, pathogenic variants in theGLI3 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.

Source: Molecular Genetics & Genomic Medicine - July 19, 2019 Category: Genetics & Stem Cells Authors: Evelina Siavrien ė, Violeta Mikštienė, Darius Radzevičius, Živilė Maldžienė, Tautvydas Rančelis, Gunda Petraitytė, Giedrė Tamulytė, Ingrida Kavaliauskienė, Laurynas Šarkinas, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitie Tags: CLINICAL REPORT Source Type: research