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Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report
Biallelic variants in the transmembrane O-mannosyltransferase targeting cadherins 3 (TMTC3) gene have been reported to cause two distinct types of neuron migration defect diseases, known as cobblestone lissencephaly (COB) and periventricular nodular heterotopia (PVNH), combined with intellectual dis...
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| Yayımlandı: | Exp Ther Med |
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| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
D.A. Spandidos
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7507045/ https://ncbi.nlm.nih.gov/pubmed/32973946 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2020.9226 |
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