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...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Sato, Yota, Shibasaki, Jun, Aida, Noriko, Hiiragi, Kazuya, Kimura, Yuichi, Akahira-Azuma, Moe, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5938052/
https://ncbi.nlm.nih.gov/pubmed/29760938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0005-y
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