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

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: Sequencing ana...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Siavrienė, Evelina, Mikštienė, Violeta, Radzevičius, Darius, Maldžienė, Živilė, Rančelis, Tautvydas, Petraitytė, Gunda, Tamulytė, Giedrė, Kavaliauskienė, Ingrida, Šarkinas, Laurynas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732282/
https://ncbi.nlm.nih.gov/pubmed/31325247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.878
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