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

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

Abstract Background Preaxial polydactyly type IV, also referred as polysyndactyly, has been described in a few syndromes. We present three generations of a family with preaxial polydactyly type IV and other clinical features of Greig cephalopolysyndactyly syndrome (GCPS). Methods and results Sequenc...

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Bibliographic Details
Main Authors: Evelina Siavrienė, Violeta Mikštienė, Darius Radzevičius, Živilė Maldžienė, Tautvydas Rančelis, Gunda Petraitytė, Giedrė Tamulytė, Ingrida Kavaliauskienė, Laurynas Šarkinas, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
functional cDNA analysis
GLI3
Greig cephalopolysyndactyly syndrome
polysyndactyly
preaxial polydactyly type IV
Online Access:https://doi.org/10.1002/mgg3.878

Internet

https://doi.org/10.1002/mgg3.878

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