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Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date,...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845254/ https://www.ncbi.nlm.nih.gov/pubmed/36685875 http://dx.doi.org/10.3389/fgene.2022.1092301 |