Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Chiari type I malformation of infants and toddlers
por: Grahovac, Gordan, et al.
Publicado: (2018) -
Precise Management of Chiari Malformation with Type I
por: Guo, Fuyou, et al.
Publicado: (2022) -
Hiccups due to Chiari type I malformation
por: Matsuura, Naoki
Publicado: (2023) -
Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation
por: Mahmoud Adel, A. H., et al.
Publicado: (2013) -
Controversies in Chiari I malformations
por: Baisden, Jamie
Publicado: (2012)