FOXI3 pathogenic variants cause one form of craniofacial microsomia

Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures derived from the first and second pharyngeal arches, can occur...

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Detalles Bibliográficos
Autores principales: Mao, Ke, Borel, Christelle, Ansar, Muhammad, Jolly, Angad, Makrythanasis, Periklis, Froehlich, Christine, Iwaszkiewicz, Justyna, Wang, Bingqing, Xu, Xiaopeng, Li, Qiang, Blanc, Xavier, Zhu, Hao, Chen, Qi, Jin, Fujun, Ankamreddy, Harinarayana, Singh, Sunita, Zhang, Hongyuan, Wang, Xiaogang, Chen, Peiwei, Ranza, Emmanuelle, Paracha, Sohail Aziz, Shah, Syed Fahim, Guida, Valentina, Piceci-Sparascio, Francesca, Melis, Daniela, Dallapiccola, Bruno, Digilio, Maria Cristina, Novelli, Antonio, Magliozzi, Monia, Fadda, Maria Teresa, Streff, Haley, Machol, Keren, Lewis, Richard A., Zoete, Vincent, Squeo, Gabriella Maria, Prontera, Paolo, Mancano, Giorgia, Gori, Giulia, Mariani, Milena, Selicorni, Angelo, Psoni, Stavroula, Fryssira, Helen, Douzgou, Sofia, Marlin, Sandrine, Biskup, Saskia, De Luca, Alessandro, Merla, Giuseppe, Zhao, Shouqin, Cox, Timothy C., Groves, Andrew K., Lupski, James R., Zhang, Qingguo, Zhang, Yong-Biao, Antonarakis, Stylianos E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090152/
https://www.ncbi.nlm.nih.gov/pubmed/37041148
http://dx.doi.org/10.1038/s41467-023-37703-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090152/
https://www.ncbi.nlm.nih.gov/pubmed/37041148
http://dx.doi.org/10.1038/s41467-023-37703-6

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