Chiari Malformation Type I in a Patient with a Novel NKX2-1 Mutation

Chiari Malformation Type 1 is a congenital, condition characterized by abnormally shaped cerebellar tonsils that are displaced below the level of the foramen magnum. NKX2-1 gene encodes a transcription factor expressed during early development of thyroid, lung, and forebrain, and germline NKX2-1 mut...

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Detalles Bibliográficos
Autores principales: Gonçalves, Daniel, Lourenço, Lara, Guardiano, Micaela, Castro-Correia, Cintia, Sampaio, Mafalda, Leão, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798275/
https://www.ncbi.nlm.nih.gov/pubmed/31649781
http://dx.doi.org/10.4103/jpn.JPN_108_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798275/
https://www.ncbi.nlm.nih.gov/pubmed/31649781
http://dx.doi.org/10.4103/jpn.JPN_108_18

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