A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial ano...

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Detalles Bibliográficos
Autores principales: Urreizti, Roser, Damanti, Sarah, Esteve, Carla, Franco-Valls, Héctor, Castilla-Vallmanya, Laura, Tonda, Raul, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5766530/
https://www.ncbi.nlm.nih.gov/pubmed/29330474
http://dx.doi.org/10.1038/s41598-017-19109-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5766530/
https://www.ncbi.nlm.nih.gov/pubmed/29330474
http://dx.doi.org/10.1038/s41598-017-19109-9

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