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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Yota Sato, Jun Shibasaki, Noriko Aida, Kazuya Hiiragi, Yuichi Kimura, Moe Akahira-Azuma, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa

ABSTRACT

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 imaging, with a de novo novel mutation in COL4A1 (c.2645_2646delinsAA, p.Gly882Glu). Our results suggest that the onset of damage that potentially results in schizencephaly occurs mid-pregnancy. More... »

PAGES

4

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0005-y

DOI

http://dx.doi.org/10.1038/s41439-018-0005-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1103607768

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29760938


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