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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,...

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Detalles Bibliográficos
Autores principales: Pachajoa, Harry, Vasquez-Forero, Diana Marcela, Giraldo-Ocampo, Sebastian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
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

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