Damaging variants in FOXI3 cause microtia and craniofacial microsomia

PURPOSE: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown. MET...

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Detalles Bibliográficos
Autores principales: Quiat, Daniel, Timberlake, Andrew T., Curran, Justin J., Cunningham, Michael L., McDonough, Barbara, Artunduaga, Maria A., DePalma, Steven R., Duenas-Roque, Milagros M., Gorham, Joshua M., Gustafson, Jonas A., Hamdan, Usama, Hing, Anne V., Hurtado-Villa, Paula, Nicolau, Yamileth, Osorno, Gabriel, Pachajoa, Harry, Porras-Hurtado, Gloria L., Quintanilla-Dieck, Lourdes, Serrano, Luis, Tumblin, Melissa, Zarante, Ignacio, Luquetti, Daniela V., Eavey, Roland D., Heike, Carrie L., Seidman, Jonathan G., Seidman, Christine E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885525/
https://www.ncbi.nlm.nih.gov/pubmed/36260083
http://dx.doi.org/10.1016/j.gim.2022.09.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885525/
https://www.ncbi.nlm.nih.gov/pubmed/36260083
http://dx.doi.org/10.1016/j.gim.2022.09.005

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