Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906336 | Gene | 2013 | 4 Pages |
Abstract
Brachydactyly is a relatively common congenital abnormality and can be associated with many other malformations. However, brachydactyly in association with absence of nasal bone is rare. Two Chinese siblings with a combination of nasal bone absence and brachydactyly are presented, apparently without other abnormalities. This combination of features do not fit into any previously described syndrome and we suggest that this case represents a new familial syndrome. Molecular genetics screening didn't revealed any specific pathogenic variants in the two siblings.
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Genetics
Authors
Guo Hong, Wang Rui Heng, Bai Yun, Yang Dong Yun,