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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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| 發表在: | J Pediatr Genet |
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| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Georg Thieme Verlag KG
2014
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| 在線閱讀: | 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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