Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecula...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Mehar, Virendra, Yadav, Dinesh, Kumar, Ravindra, Yadav, Summi, Singh, Kuldeep, Callewaert, Bert, Pathan, Shahnawaz, De Paepe, Anne, Coucke, Paul J.
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2014
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020994/
https://ncbi.nlm.nih.gov/pubmed/27625873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14093
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