Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imag...

Descripción completa

Detalles Bibliográficos
Autores principales: Sato, Yota, Shibasaki, Jun, Aida, Noriko, Hiiragi, Kazuya, Kimura, Yuichi, Akahira-Azuma, Moe, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938052/
https://www.ncbi.nlm.nih.gov/pubmed/29760938
http://dx.doi.org/10.1038/s41439-018-0005-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938052/
https://www.ncbi.nlm.nih.gov/pubmed/29760938
http://dx.doi.org/10.1038/s41439-018-0005-y

Ejemplares similares