Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report

BACKGROUND: Lissencephaly (LIS) is a malformation of cortical development with broad gyri, shallow sulci and thickened cortex characterized by developmental delays and seizures. Currently, 20 genes have been implicated in LIS. However, GRP56-related LIS has never been reported. GRP56 is considered o...

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Detalles Bibliográficos
Autores principales: Lin, Wen-Xin, Chai, Ying-Ying, Huang, Ting-Ting, Zhang, Xia, Zheng, Guo, Zhang, Gang, Peng, Fang, Huang, Yan-Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8771398/
https://www.ncbi.nlm.nih.gov/pubmed/35097086
http://dx.doi.org/10.12998/wjcc.v10.i2.607

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8771398/
https://www.ncbi.nlm.nih.gov/pubmed/35097086
http://dx.doi.org/10.12998/wjcc.v10.i2.607

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