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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...

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Detalles Bibliográficos
Main Authors: Tunçbilek, Ergül, Alanay, Yasemin
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2006
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1524931/
https://ncbi.nlm.nih.gov/pubmed/16740166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-1-20
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