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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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Autors principals: Tunçbilek, Ergül, Alanay, Yasemin
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2006
Matèries:
Accés en línia: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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