Craniofrontonasal syndrome caused by introduction of a novel uATG in the 5′UTR of EFNB1
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by EFNB1 mutations in which females are more severely affected than males. Severe male phenotypes are associated with mosaicism, supporting cellular interference for sex bias in this disease. Although many variants have been found in t...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Journal article |
| Published: |
Karger
2018
|