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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Detalles Bibliográficos
Autores principales: Liu, Guanghua, Zhou, Qing, Lin, Han, Li, Niu, Ye, Hong, Wang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507045/
https://www.ncbi.nlm.nih.gov/pubmed/32973946
http://dx.doi.org/10.3892/etm.2020.9226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507045/
https://www.ncbi.nlm.nih.gov/pubmed/32973946
http://dx.doi.org/10.3892/etm.2020.9226

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