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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Detaylı Bibliyografya
Yayımlandı:J Pediatr Neurosci
Asıl Yazarlar: Gonçalves, Daniel, Lourenço, Lara, Guardiano, Micaela, Castro-Correia, Cintia, Sampaio, Mafalda, Leão, Miguel
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer - Medknow 2019
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6798275/
https://ncbi.nlm.nih.gov/pubmed/31649781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_108_18
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