Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations an...
প্রধান লেখক: | , , , , , , |
---|---|
বিন্যাস: | Journal article |
ভাষা: | English |
প্রকাশিত: |
2014
|
Search Result 1
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
প্রকাশিত 2014
Journal article