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Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
BACKGROUND: Ellis-van Creveld (EvC) syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth and is inherited in an autosomal recessive pattern. We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2584628/ https://ncbi.nlm.nih.gov/pubmed/18947413 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-92 |
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