Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice
Familial hypertelorism, characterized by widely spaced eyes, classically shows autosomal dominant inheritance (Teebi type), but some pedigrees are compatible with X-linkage. No mechanism has been described previously, but clinical similarity has been noted to craniofrontonasal syndrome (CFNS), which...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
Wiley Subscription Services, Inc., A Wiley Company
2011
|
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170877/ |