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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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| Pubblicato in: | Hum Genome Var |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group UK
2018
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| Soggetti: | |
| Accesso online: | 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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