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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| 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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