Cargando…
Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome()
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in the EFNB1 gene and characterized by distinctive craniofacial and digital malformations. In contrast with most X-linked traits, female patients with CFNS display a more severe phenotype than males. In this report, the cl...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2013
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287793/ https://www.ncbi.nlm.nih.gov/pubmed/25606386 http://dx.doi.org/10.1016/j.mgene.2013.11.001 |