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Congenital contractural arachnodactyly (Beals syndrome)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosom...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2006
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1524931/ https://www.ncbi.nlm.nih.gov/pubmed/16740166 http://dx.doi.org/10.1186/1750-1172-1-20 |