A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly
•We identified a novel FBN2 mutation (C1406R) in a Chinese family with CCA.•The mutation presented in the patients of this family but not in unaffected members.•SIFT and PolyPhen analyses suggested that the mutation was pathogenic.•The mutation was located in the calcium-binding epidermal growth fac...
| Main Authors: | , , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Elsevier
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359973/ |