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Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations
Greig cephalopolysyndactyly syndrome (GCPS) and isolated preaxial polydactyly type IV (PPD-IV) are rare autosomal dominant disorders, both caused by mutations in the GLI3 gene. GCPS is mainly characterised by craniofacial abnormalities (macrocephaly/prominent forehead, hypertelorism) and limb malfor...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477483/ https://www.ncbi.nlm.nih.gov/pubmed/22903559 http://dx.doi.org/10.1007/s13353-012-0109-x |